ClinVar Miner

Submissions for variant NM_000096.4(CP):c.809T>C (p.Leu270Pro)

dbSNP: rs760359106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236392 SCV001409115 uncertain significance Deficiency of ferroxidase 2019-07-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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 CP-related conditions. This variant is present in population databases (rs760359106, ExAC 0.002%). This sequence change replaces leucine with proline at codon 270 of the CP protein (p.Leu270Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
GeneDx RCV004778022 SCV005389353 uncertain significance not provided 2024-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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