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NM_170707.4(LMNA):c.1634G>A (p.Arg545His) AND Lethal tight skin contracture syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001101057.11

Allele description [Variation Report for NM_170707.4(LMNA):c.1634G>A (p.Arg545His)]

NM_170707.4(LMNA):c.1634G>A (p.Arg545His)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
HGVS:
  • NC_000001.11:g.156137679G>A
  • NG_008692.2:g.60107G>A
  • NM_001257374.3:c.1298G>A
  • NM_001282624.2:c.1391G>A
  • NM_001282625.2:c.1634G>A
  • NM_001282626.2:c.1634G>A
  • NM_005572.4:c.1634G>A
  • NM_170707.4:c.1634G>AMANE SELECT
  • NM_170708.4:c.1608+447G>A
  • NP_001244303.1:p.Arg433His
  • NP_001269553.1:p.Arg464His
  • NP_001269554.1:p.Arg545His
  • NP_001269555.1:p.Arg545His
  • NP_005563.1:p.Arg545His
  • NP_005563.1:p.Arg545His
  • NP_733821.1:p.Arg545His
  • LRG_254t1:c.1634G>A
  • LRG_254t2:c.1634G>A
  • LRG_254:g.60107G>A
  • LRG_254p1:p.Arg545His
  • NC_000001.10:g.156107470G>A
  • NM_005572.3:c.1634G>A
  • NM_170707.2:c.1634G>A
  • NM_170707.3(LMNA):c.1634G>A
  • NM_170707.3:c.1634G>A
  • NM_170707.4:c.1634G>A
Protein change:
R433H
Links:
dbSNP: rs142191737
NCBI 1000 Genomes Browser:
rs142191737
Molecular consequence:
  • NM_170708.4:c.1608+447G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257374.3:c.1298G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lethal tight skin contracture syndrome
Synonyms:
Hyperkeratosis-contracture syndrome; Restrictive dermopathy, lethal; Fetal hypokinesia sequence due to restrictive dermopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0031213; MedGen: C0406585; Orphanet: 1662; OMIM: PS275210

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001257626Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Oct 11, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001257626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024