ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)

gnomAD frequency: 0.00001  dbSNP: rs995403413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253339 SCV001429000 likely pathogenic Noonan syndrome-like disorder with loose anagen hair 1 2019-11-05 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001253339 SCV002012488 uncertain significance Noonan syndrome-like disorder with loose anagen hair 1 2021-05-13 criteria provided, single submitter research ACMG codes: PM2
Ambry Genetics RCV002393668 SCV002699324 uncertain significance Cardiovascular phenotype 2022-01-19 criteria provided, single submitter clinical testing The p.N480T variant (also known as c.1439A>C), located in coding exon 7 of the SHOC2 gene, results from an A to C substitution at nucleotide position 1439. The asparagine at codon 480 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002568732 SCV003026570 uncertain significance RASopathy 2022-03-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 976139). This variant has not been reported in the literature in individuals affected with SHOC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 480 of the SHOC2 protein (p.Asn480Thr).

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