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NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2012
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:
RCV000181332.2

Allele description [Variation Report for NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)]

NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)
Other names:
p.T1930R:ACA>AGA
HGVS:
  • NC_000006.12:g.7583051C>G
  • NG_008803.1:g.46415C>G
  • NM_001008844.3:c.3992C>G
  • NM_001319034.2:c.4460C>G
  • NM_004415.4:c.5789C>GMANE SELECT
  • NP_001008844.1:p.Thr1331Arg
  • NP_001305963.1:p.Thr1487Arg
  • NP_004406.2:p.Thr1930Arg
  • LRG_423t1:c.5789C>G
  • LRG_423:g.46415C>G
  • NC_000006.11:g.7583284C>G
  • NM_004415.2:c.5789C>G
Protein change:
T1331R
Links:
dbSNP: rs794728126
NCBI 1000 Genomes Browser:
rs794728126
Molecular consequence:
  • NM_001008844.3:c.3992C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.4460C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.5789C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233629GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 3, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233629.10

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

Description

p.Thr1930Arg (ACA>AGA): c.5789 C>G in exon 24 of the DSP gene (NM_004415.2). The Thr1930Arg variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr1930Arg results in a non-conservative amino acid substitution of a neutral Threonine with a positively charged Arginine at a position that is not well conserved across species. As a result, in silico analysis predicts Thr1930Arg has a benign effect on the protein structure/function. In addition, no missense mutations have been reported in this region of the DSP gene to date, indicating this region of the protein may tolerate change (Van der Zwaag P et al., 2009). However, the NHLBI ESP Exome Variant Server reports Thr1930Arg was not observed in approximately 6000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Thr1930Arg is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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

Last Updated: Sep 29, 2024