ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3791A>G (p.Asn1264Ser)

gnomAD frequency: 0.00001  dbSNP: rs1010121578
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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 RCV000964654 SCV001111883 benign not provided 2022-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897945 SCV004711277 uncertain significance MTOR-related disorder 2024-02-03 no assertion criteria provided clinical testing The MTOR c.3791A>G variant is predicted to result in the amino acid substitution p.Asn1264Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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