ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)

gnomAD frequency: 0.00002  dbSNP: rs386833403
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455940 SCV000539615 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband; ExAC: 1/51192 European chromosomes
Labcorp Genetics (formerly Invitae), Labcorp RCV000464409 SCV000541221 likely benign Multiple endocrine neoplasia, type 1 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575663 SCV000673631 likely benign Hereditary cancer-predisposing syndrome 2021-11-15 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.
Baylor Genetics RCV000464409 SCV004194436 uncertain significance Multiple endocrine neoplasia, type 1 2024-02-06 criteria provided, single submitter clinical testing

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