ClinVar Miner

Submissions for variant NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)

gnomAD frequency: 0.00051  dbSNP: rs150801397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253164 SCV002523389 benign See cases 2019-12-16 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BS2, BP4
Ambry Genetics RCV003094131 SCV003744836 likely benign Inborn genetic diseases 2022-01-26 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.
Revvity Omics, Revvity RCV003138128 SCV003827482 uncertain significance not provided 2019-11-02 criteria provided, single submitter clinical testing

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