VCV000098355.1 - ClinVar

NM_018662.3(DISC1):c.1819C>T (p.Leu607Phe)

Germline

Classification

no classification provided. Learn more about how ClinVar calculates review status.

not provided
not provided (1)

This classification is based on the single submission received

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_018662.3(DISC1):c.1819C>T (p.Leu607Phe)

Variation ID: 98355 Accession: VCV000098355.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 1q42.2 1: 231818355 (GRCh38) [ NCBI UCSC ] 1: 231954101 (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	Feb 20, 2014	Feb 20, 2014

HGVS

Nucleotide	Protein	Molecular consequence
NM_018662.3:c.1819C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_061132.2:p.Leu607Phe	missense
NM_001012957.2:c.1819C>T	NP_001012975.1:p.Leu607Phe	missense
NM_001012959.2:c.1819C>T	NP_001012977.1:p.Leu607Phe	missense
NM_001164537.2:c.1915C>T	NP_001158009.1:p.Leu639Phe	missense
NM_001164538.2:c.1819C>T	NP_001158010.1:p.Leu607Phe	missense
NM_001164539.2:c.1819C>T	NP_001158011.1:p.Leu607Phe	missense
NM_001164540.2:c.1453C>T	NP_001158012.1:p.Leu485Phe	missense
NM_001164541.2:c.1819C>T	NP_001158013.1:p.Leu607Phe	missense
NM_001164542.2:c.1819C>T	NP_001158014.1:p.Leu607Phe	missense
NM_001164544.2:c.1819C>T	NP_001158016.1:p.Leu607Phe	missense
NM_001164545.2:c.1716C>T	NP_001158017.1:p.Thr572=	synonymous
NM_001164546.2:c.1634+47285C>T		intron variant
NM_001164547.2:c.1634+47285C>T		intron variant
NM_001164548.2:c.*5C>T		3 prime UTR
NM_001164556.2:c.*5C>T		3 prime UTR
NR_002227.2:n.163G>A		non-coding transcript variant
NR_028393.1:n.2485C>T		non-coding transcript variant
NR_028394.1:n.2668C>T		non-coding transcript variant
NR_028395.1:n.2565C>T		non-coding transcript variant
NR_028396.1:n.2540C>T		non-coding transcript variant
NR_028397.1:n.2405C>T		non-coding transcript variant
NR_028398.1:n.2159C>T		non-coding transcript variant
NC_000001.11:g.231818355C>T
NC_000001.10:g.231954101C>T
NG_011681.2:g.196541C>T

... more HGVS ... less HGVS

Protein change

L607F, L485F, L639F

Other names

Canonical SPDI

NC_000001.11:231818354:C:T

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.

0.09585 (T)

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

1000 Genomes Project 0.09585

1000 Genomes Project 30x 0.09916

The Genome Aggregation Database (gnomAD), exomes 0.11077

Exome Aggregation Consortium (ExAC) 0.11557

The Genome Aggregation Database (gnomAD), exomes 0.12980

Trans-Omics for Precision Medicine (TOPMed) 0.13738

The Genome Aggregation Database (gnomAD) 0.13856

The Genome Aggregation Database (gnomAD) 0.14477

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.15370

Links

ClinGen: CA225553 dbSNP: rs6675281 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.
DISC1		No evidence available	No evidence available	GRCh38 GRCh37	10	233
DISC2		-	-	GRCh38 GRCh37	-	58
TSNAX-DISC1	-	-	-	GRCh38	-	226

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.
not provided	not provided (1)	no classification provided	-	RCV000084646.1

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.
not provided (-) C Contributing to aggregate classification	no classification provided	not provided	Psychiatry Genetics Yale University Accession: SCV000116782.1 First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014	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

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs6675281 ...

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 May 17, 2025