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NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2023
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:
RCV001189664.4

Allele description [Variation Report for NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)]

NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
Other names:
p.L1995S:TTG>TCG
HGVS:
  • NC_000006.12:g.7583246T>C
  • NG_008803.1:g.46610T>C
  • NM_001008844.3:c.4187T>C
  • NM_001319034.2:c.4655T>C
  • NM_004415.4:c.5984T>CMANE SELECT
  • NP_001008844.1:p.Leu1396Ser
  • NP_001305963.1:p.Leu1552Ser
  • NP_004406.2:p.Leu1995Ser
  • LRG_423t1:c.5984T>C
  • LRG_423:g.46610T>C
  • NC_000006.11:g.7583479T>C
  • NM_004415.2:c.5984T>C
Protein change:
L1396S
Links:
dbSNP: rs794728128
NCBI 1000 Genomes Browser:
rs794728128
Molecular consequence:
  • NM_001008844.3:c.4187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.4655T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.5984T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001356995Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 28, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases.

Hellenthal N, Gaertner-Rommel A, Klauke B, Paluszkiewicz L, Stuhr M, Kerner T, Farr M, PĆ¼schel K, Milting H.

Europace. 2017 Nov 1;19(11):1881-1890. doi: 10.1093/europace/euw247.

PubMed [citation]
PMID:
29016939

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Marschall C, Moscu-Gregor A, Klein HG.

Cardiovasc Diagn Ther. 2019 Oct;9(Suppl 2):S292-S298. doi: 10.21037/cdt.2019.06.06.

PubMed [citation]
PMID:
31737537
PMCID:
PMC6837920
See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001356995.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This missense variant replaces leucine with serine at codon 1995 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 31737537) and sudden unexplained death (PMID: 29016939). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024