ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.303A>T (p.Ala101=)

gnomAD frequency: 0.00155  dbSNP: rs142449515
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242517 SCV000301560 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297784 SCV000448737 uncertain significance Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000297784 SCV001031448 benign Aspartylglucosaminuria 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619233 SCV005119507 likely benign Inborn genetic diseases 2024-05-06 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.
Natera, Inc. RCV000297784 SCV001461151 likely benign Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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