ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.530C>T (p.Pro177Leu)

gnomAD frequency: 0.00001  dbSNP: rs753632651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565052 SCV001788322 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001565052 SCV002407372 benign not provided 2023-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910885 SCV004719986 uncertain significance RAI1-related disorder 2023-12-31 no assertion criteria provided clinical testing The RAI1 c.530C>T variant is predicted to result in the amino acid substitution p.Pro177Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD, which may be too common to be an undocumented primary cause of disease. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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