ClinVar Miner

Submissions for variant NM_000143.4(FH):c.784A>C (p.Ile262Leu)

dbSNP: rs199829765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002561890 SCV001388107 uncertain significance not provided 2019-04-05 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 tolerated, 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 FH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with leucine at codon 262 of the FH protein (p.Ile262Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine.

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