ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)

gnomAD frequency: 0.00002  dbSNP: rs529755922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170998 SCV000223561 uncertain significance not provided 2023-03-02 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001088885 SCV000541520 likely benign Long QT syndrome 2023-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426812 SCV002740875 benign Cardiovascular phenotype 2022-10-14 criteria provided, single submitter clinical testing This alteration is classified as 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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