ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)

gnomAD frequency: 0.00003  dbSNP: rs757895735
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611974 SCV000726521 likely benign not specified 2018-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631783 SCV000752874 likely benign Long QT syndrome 2024-04-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491280 SCV002794648 likely benign Long QT syndrome 13; Familial hyperaldosteronism type III 2021-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992400 SCV005604453 likely benign Cardiovascular phenotype 2024-06-28 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.

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