ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)

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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 RCV003508645 SCV004283513 uncertain significance Fibrous dysplasia of jaw 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 156 of the SH3BP2 protein (p.Val156Ala). 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 SH3BP2 protein function. This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV004661688 SCV005157229 uncertain significance Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing The c.467T>C (p.V156A) alteration is located in exon 6 (coding exon 5) of the SH3BP2 gene. This alteration results from a T to C substitution at nucleotide position 467, causing the valine (V) at amino acid position 156 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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