ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.733G>A (p.Val245Ile)

gnomAD frequency: 0.00001  dbSNP: rs761636280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266632 SCV002548668 uncertain significance Noonan syndrome-like disorder with loose anagen hair 1 2021-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120861 SCV003784815 uncertain significance RASopathy 2022-12-04 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 SHOC2 protein function. ClinVar contains an entry for this variant (Variation ID: 1696502). This variant has not been reported in the literature in individuals affected with SHOC2-related conditions. This variant is present in population databases (rs761636280, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 245 of the SHOC2 protein (p.Val245Ile).

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