ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4033G>T (p.Ala1345Ser)

gnomAD frequency: 0.00005  dbSNP: rs374370209
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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 RCV001872278 SCV002123031 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359294 SCV002623418 uncertain significance Inborn genetic diseases 2018-07-23 criteria provided, single submitter clinical testing The p.A1345S variant (also known as c.4033G>T), located in coding exon 1 of the RAI1 gene, results from a G to T substitution at nucleotide position 4033. The alanine at codon 1345 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004743601 SCV005360094 likely benign RAI1-related disorder 2024-08-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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