ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1197C>G (p.Ile399Met)

gnomAD frequency: 0.00001  dbSNP: rs375828592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182293 SCV001347697 uncertain significance Cardiomyopathy 2023-06-07 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with methionine at codon 399 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in three individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 24125834). This variant has been identified in 7/251198 chromosomes 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001346562 SCV001540779 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040000 SCV005672884 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2024-05-31 criteria provided, single submitter clinical testing

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