ClinVar Miner

Submissions for variant NM_024700.4(SNIP1):c.332G>A (p.Arg111His)

gnomAD frequency: 0.00019  dbSNP: rs41267307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791270 SCV000930556 uncertain significance Predisposition to dissection 2019-03-22 criteria provided, single submitter clinical testing
Invitae RCV002535838 SCV003264676 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SNIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 638581). This variant has not been reported in the literature in individuals affected with SNIP1-related conditions. This variant is present in population databases (rs41267307, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 111 of the SNIP1 protein (p.Arg111His).

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