ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)

gnomAD frequency: 0.00006  dbSNP: rs145732429
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727617 SCV000854877 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727617 SCV002464218 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
New York Genome Center RCV002227493 SCV002506908 uncertain significance Smith-Magenis syndrome 2021-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533077 SCV003620652 likely benign Inborn genetic diseases 2022-05-11 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 RCV003420283 SCV004118476 uncertain significance RAI1-related disorder 2024-02-02 no assertion criteria provided clinical testing The RAI1 c.5528T>C variant is predicted to result in the amino acid substitution p.Phe1843Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, 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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