ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser)

dbSNP: rs1688385247
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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 RCV001044070 SCV001207844 uncertain significance Ehlers-Danlos syndrome, type 4 2019-11-27 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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). This sequence change replaces alanine with serine at codon 667 of the COL3A1 protein (p.Ala667Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.

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