ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe)

dbSNP: rs1060500198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458033 SCV000541804 uncertain significance Ehlers-Danlos syndrome, type 4 2016-09-23 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL3A1-related disease. This sequence change replaces leucine with phenylalanine at codon 947 of the COL3A1 protein (p.Leu947Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.

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