VCV000014501.6 - ClinVar

NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Pathogenic
Pathogenic (1)

1 out of 3 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)

Variation ID: 14501 Accession: VCV000014501.6

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1q22 1: 156138611 (GRCh38) [ NCBI UCSC ] 1: 156108402 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Oct 19, 2013	Oct 29, 2022	May 15, 2003

HGVS

Nucleotide	Protein	Molecular consequence
NM_170707.4:c.1822G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_733821.1:p.Gly608Ser	missense
NM_001257374.3:c.1486G>A	NP_001244303.1:p.Gly496Ser	missense
NM_001282626.2:c.1818+4G>A		intron variant
NM_170708.4:c.1732G>A	NP_733822.1:p.Gly578Ser	missense
NC_000001.11:g.156138611G>A
NC_000001.10:g.156108402G>A
NG_008692.2:g.61039G>A
LRG_254:g.61039G>A
LRG_254t2:c.1822G>A	LRG_254p2:p.Gly608Ser
	P02545:p.Gly608Ser

... more HGVS ... less HGVS

Protein change

G608S, G578S, G496S

Other names

Canonical SPDI

NC_000001.11:156138610:G:A

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA015235 UniProtKB: P02545#VAR_017664 OMIM: 150330.0023 dbSNP: rs61064130 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
LMNA		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	2183	2514

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Hutchinson-Gilford syndrome	Pathogenic (2)	no assertion criteria provided	May 15, 2003	RCV000015595.38
not provided	not provided (1)	no classification provided	-	RCV000057363.9

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (May 15, 2003) C Contributing to aggregate classification	no assertion criteria provided	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM Accession: SCV000035860.4 First in ClinVar: Apr 04, 2013 Last updated: Mar 19, 2022	Publications: PubMed (2) PubMed: 12714972‚ 12768443 Observation: 1 Collection method: literature only Allele origin: germline Affected status: not provided more Observation 1 Collection method: literature only Allele origin: germline Affected status: not provided Comment on evidence: In a patient with Hutchinson-Gilford progeria syndrome (HGPS; 176670), Eriksson et al. (2003) identified a G-to-A transition in the LMNA gene resulting in a gly-to-ser … (more) In a patient with Hutchinson-Gilford progeria syndrome (HGPS; 176670), Eriksson et al. (2003) identified a G-to-A transition in the LMNA gene resulting in a gly-to-ser substitution at codon 608 (G608S). This mutation was not identified in either parent. Cao and Hegele (2003) confirmed the observation of Eriksson et al. (2003) using the same cell line. (less)

not provided (-) N Not contributing to aggregate classification	no classification provided	not provided	Epithelial Biology; Institute of Medical Biology, Singapore Accession: SCV000088476.1 First in ClinVar: Oct 19, 2013 Last updated: Oct 19, 2013	Observation: 1 Collection method: not provided Allele origin: not provided Affected status: not provided Observation 1 Collection method: not provided Allele origin: not provided Affected status: not provided

not provided (-) N Not contributing to aggregate classification	no classification provided	Hutchinson-Gilford syndrome	GeneReviews Accession: SCV000196619.3 First in ClinVar: Oct 05, 2015 Last updated: Oct 29, 2022	Publications: PubMed (1) PubMed: 12714972 Bookshelf: NBK1121 Bookshelf: NBK1121 Observation: 1 Collection method: literature only Allele origin: de novo Affected status: unknown Observation 1 Collection method: literature only Allele origin: de novo Affected status: unknown

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Hutchinson-Gilford Progeria Syndrome.	Adam MP	-	2025	PMID: 20301300
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).	Cao H	Journal of human genetics	2003	PMID: 12768443
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.	Eriksson M	Nature	2003	PMID: 12714972

Text-mined citations for rs61064130 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 05, 2026