ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)

gnomAD frequency: 0.00022  dbSNP: rs761368099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000992247 SCV000813469 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992247 SCV001144365 uncertain significance not provided 2018-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000992247 SCV001771920 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026219 SCV002754753 likely benign not specified 2023-11-15 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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