ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.98C>T (p.Pro33Leu)

dbSNP: rs753461570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880724 SCV002141912 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001880724 SCV002498252 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690155 SCV005185539 uncertain significance not specified 2024-05-06 criteria provided, single submitter clinical testing Variant summary: RAI1 c.98C>T (p.Pro33Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250864 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.98C>T in individuals affected with Smith-Magenis Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1373332). Based on the evidence outlined above, the variant was classified as uncertain significance.

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