ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3247A>G (p.Met1083Val)

gnomAD frequency: 0.00009  dbSNP: rs56164650
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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 RCV000868365 SCV001009683 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000868365 SCV001859540 benign not provided 2020-02-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000868365 SCV002496456 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing MTOR: BS1
Ambry Genetics RCV004027722 SCV005009229 likely benign Inborn genetic diseases 2023-12-26 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.

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