ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln)

gnomAD frequency: 0.00010  dbSNP: rs144424788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660439 SCV000782530 uncertain significance Frank-Ter Haar syndrome 2016-11-16 criteria provided, single submitter clinical testing
Invitae RCV001861719 SCV002286365 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 468 of the SH3PXD2B protein (p.Arg468Gln). This variant is present in population databases (rs144424788, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SH3PXD2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 547887). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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