ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)

gnomAD frequency: 0.00006  dbSNP: rs149773722
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222527 SCV000270171 likely benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Thr1806Ser in exon 24 of DSP: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 4 mammals (dolphin, shrew, opossum, wallaby) and >15 birds, reptiles, and f ish have a serine (Ser) at this position despite high nearby amino acid conserva tion. It has also been identified in 2/10348 African chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs149773722).
GeneDx RCV001775676 SCV002013825 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001853408 SCV002177128 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347824 SCV002647907 uncertain significance Cardiovascular phenotype 2020-02-02 criteria provided, single submitter clinical testing The p.T1806S variant (also known as c.5417C>G), located in coding exon 24 of the DSP gene, results from a C to G substitution at nucleotide position 5417. The threonine at codon 1806 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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