ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) (rs550665335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507021 SCV000603144 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000530078 SCV000631667 uncertain significance Ehlers-Danlos syndrome, type 4 2017-04-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1203 of the COL3A1 protein (p.Ala1203Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs550665335, ExAC 0.01%). This variant has been reported in the literature in one individual affected with a dissection of the hepatic artery, joint hypermobility and hyperelasticity (PMID: 25758994). 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, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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