ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu)

gnomAD frequency: 0.18268  dbSNP: rs3803405
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430129 SCV000525624 benign not specified 2016-09-23 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.
Invitae RCV002058927 SCV002357910 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411345 SCV002715727 benign Cardiovascular phenotype 2018-12-04 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430129 SCV003928511 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539838 SCV004798597 benign ALPK3-related disorder 2019-09-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000430129 SCV001921542 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000430129 SCV001970939 benign not specified no assertion criteria provided clinical testing

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