ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.5091G>A (p.Glu1697=)

gnomAD frequency: 0.00271  dbSNP: rs116608834
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000972891 SCV000719575 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972891 SCV001120620 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350473 SCV002647472 benign Cardiovascular phenotype 2019-03-08 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.
Breakthrough Genomics, Breakthrough Genomics RCV000972891 SCV005213358 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004544741 SCV004759898 likely benign ALPK3-related disorder 2019-04-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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