ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg)

dbSNP: rs2100901805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591643 SCV001815657 likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2020-09-23 criteria provided, single submitter clinical testing The de novo heterozygous p.Cys606Arg missense variant identified in the MTOR gene has not been reported in affected individuals in the literature. The variant is absent from the gnomAD database indicating it is an extremely rare allele in the general population. The affected residue is highly conserved during evolution. The p.Cys606Arg variant is predicted deleterious by multiple in silico tools (CADD score = 28.4, REVEL score = 0.78). The vast majority of disease-causing variants reported in the MTOR gene are missense. Based on the available evidence, the de novo p.Cys606Arg variant in the MTOR gene is classified as likely pathogenic.

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