ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.582C>A (p.Val194=)

gnomAD frequency: 0.00003  dbSNP: rs914389404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617205 SCV000736164 likely benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002491315 SCV002795468 likely benign Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091759 SCV005812424 likely benign Progressive familial heart block type IB 2024-08-29 criteria provided, single submitter clinical testing

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