ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.1715G>A (p.Arg572Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818965 SCV005438978 uncertain significance Ehlers-Danlos syndrome, periodontal type 2 2023-07-22 criteria provided, single submitter clinical testing The missense variant c.1715G>Ap.Arg572Gln in C1S gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant has allele frequency of 0.001% in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence Polyphen - benign, SIFT - tolerated and MutationTaster - polymorphism predicts no damaging effect on protein structure and function for this variant. The amino acid Arg at position 572 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance VUS.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061469 SCV005694323 uncertain significance not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 572 of the C1S protein (p.Arg572Gln). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with C1S-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt C1S protein function with a negative predictive value of 80%. 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.

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