ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile)

gnomAD frequency: 0.00001  dbSNP: rs41316719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232664 SCV001405230 uncertain significance Osteogenesis imperfecta type I 2019-08-22 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has been observed in an individual with osteoporosis (PMID: 24273577). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 1177 of the COL1A1 protein (p.Val1177Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.

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