ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) (rs771654029)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245198 SCV000319502 uncertain significance Cardiovascular phenotype 2015-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000389469 SCV000425501 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000389469 SCV000831640 uncertain significance Ehlers-Danlos syndrome, type 4 2018-06-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 172 of the COL3A1 protein (p.Tyr172Ser). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and serine. This variant is present in population databases (rs771654029, ExAC 0.07%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with COL3A1-related disease. ClinVar contains an entry for this variant (Variation ID: 263946). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Unknown"; Align-GVGD: "Class C0"). 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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