ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)

gnomAD frequency: 0.00001  dbSNP: rs730880089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538142 SCV000641337 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019895 SCV003599077 uncertain significance Cardiovascular phenotype 2021-12-17 criteria provided, single submitter clinical testing The c.6812A>C (p.K2271T) alteration is located in exon 24 (coding exon 24) of the DSP gene. This alteration results from a A to C substitution at nucleotide position 6812, causing the lysine (K) at amino acid position 2271 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000157209 SCV000206933 uncertain significance Ventricular fibrillation, paroxysmal familial, type 1 2014-09-24 no assertion criteria provided clinical testing

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