ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu)

dbSNP: rs765224053
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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 RCV001933735 SCV002199554 uncertain significance Osteogenesis imperfecta type I 2021-04-11 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL1A1 protein function. This variant has not been reported in the literature in individuals with COL1A1-related conditions. This variant is present in population databases (rs765224053, ExAC 0.002%). This sequence change replaces phenylalanine with leucine at codon 1456 of the COL1A1 protein (p.Phe1456Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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