ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2329G>C (p.Asp777His)

gnomAD frequency: 0.00001  dbSNP: rs959911033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487976 SCV000575092 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000487976 SCV003021786 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023230 SCV004935616 likely benign Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004742448 SCV005342780 uncertain significance RAI1-related disorder 2024-05-24 no assertion criteria provided clinical testing The RAI1 c.2329G>C variant is predicted to result in the amino acid substitution p.Asp777His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. 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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