ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5462G>C (p.Ser1821Thr)

gnomAD frequency: 0.00001  dbSNP: rs1278874733
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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 RCV002015807 SCV002297072 benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699634 SCV005202873 uncertain significance not specified 2024-07-24 criteria provided, single submitter clinical testing Variant summary: MTOR c.5462G>C (p.Ser1821Thr) results in a conservative amino acid change located in the PIK-related kinase, FAT (IPR003151) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 240366 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5462G>C in individuals affected with Smith-Kingsmore Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1500643). Based on the evidence outlined above, the variant was classified as uncertain significance.

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