ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)

dbSNP: rs1576460785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814735 SCV000955157 uncertain significance Ehlers-Danlos syndrome, type 4 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 81 of the COL3A1 protein (p.Phe81Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency).
Color Diagnostics, LLC DBA Color Health RCV003528235 SCV004361428 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-06 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with serine at codon 81 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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