ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3479G>A (p.Arg1160Gln)

gnomAD frequency: 0.00004  dbSNP: rs764373875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002008457 SCV002273558 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418286 SCV004115948 uncertain significance RAI1-related disorder 2024-09-23 no assertion criteria provided clinical testing The RAI1 c.3479G>A variant is predicted to result in the amino acid substitution p.Arg1160Gln. This variant has been reported in the homozygous state in two individuals with primary familial brain calcification; however, both reported individuals were also homozygous for an in-frame three nucleotide deletion in the MYORG gene (Arkadir et al. 2018. PubMed ID: 30656188). This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD, which may be too common to be a primary cause of disease. 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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