ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1741A>G (p.Met581Val)

dbSNP: rs1470655019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761077 SCV000890992 uncertain significance Noonan syndrome 2020-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533859 SCV003448960 uncertain significance RASopathy 2023-08-30 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: 620614). This variant has not been reported in the literature in individuals affected with SHOC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 581 of the SHOC2 protein (p.Met581Val).
PreventionGenetics, part of Exact Sciences RCV003396327 SCV004109924 uncertain significance SHOC2-related disorder 2023-01-23 criteria provided, single submitter clinical testing The SHOC2 c.1741A>G variant is predicted to result in the amino acid substitution p.Met581Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-112771568-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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