ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.10459A>G (p.Thr3487Ala)

gnomAD frequency: 0.00005  dbSNP: rs781796838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665365 SCV001872733 likely benign not provided 2021-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001665365 SCV003291072 benign not provided 2024-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539606 SCV003688889 likely benign Inborn genetic diseases 2022-06-13 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.

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