ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys)

dbSNP: rs1240460489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253128 SCV002523301 uncertain significance See cases 2019-10-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126206 SCV003804045 likely benign Developmental disorder 2022-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047384 SCV004936083 uncertain significance Inborn genetic diseases 2023-09-21 criteria provided, single submitter clinical testing The c.176A>G (p.Y59C) alteration is located in exon 3 (coding exon 1) of the RAI1 gene. This alteration results from a A to G substitution at nucleotide position 176, causing the tyrosine (Y) at amino acid position 59 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005058186 SCV005717679 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 59 of the RAI1 protein (p.Tyr59Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1690710). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RAI1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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