ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln)

gnomAD frequency: 0.00048  dbSNP: rs144659619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594287 SCV000701708 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764590 SCV000895685 uncertain significance Frank-Ter Haar syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000594287 SCV002148953 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 698 of the SH3PXD2B protein (p.Arg698Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs144659619, ExAC 0.2%). 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: 497282). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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