ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1738G>A (p.Ala580Thr)

gnomAD frequency: 0.00002  dbSNP: rs1234368339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046171 SCV002314782 uncertain significance RASopathy 2023-06-17 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: 1520847). 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 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 580 of the SHOC2 protein (p.Ala580Thr).
CeGaT Center for Human Genetics Tuebingen RCV004598174 SCV005092494 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing SHOC2: PM2:Supporting
Ambry Genetics RCV004671628 SCV005164438 uncertain significance Cardiovascular phenotype 2024-04-01 criteria provided, single submitter clinical testing The p.A580T variant (also known as c.1738G>A), located in coding exon 8 of the SHOC2 gene, results from a G to A substitution at nucleotide position 1738. The alanine at codon 580 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004598174 SCV005396042 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function

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