ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.6742G>A (p.Ala2248Thr)

dbSNP: rs181023452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211063 SCV001382585 benign not provided 2023-08-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749621 SCV005346007 uncertain significance MTOR-related disorder 2024-07-16 no assertion criteria provided clinical testing The MTOR c.6742G>A variant is predicted to result in the amino acid substitution p.Ala2248Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD. This variant could be benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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