ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser)

dbSNP: rs1273349782
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062855 SCV001227678 uncertain significance Osteogenesis imperfecta type I 2019-11-19 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 COL1A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 318 of the COL1A1 protein (p.Pro318Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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