ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.256T>A (p.Leu86Ile)

dbSNP: rs2149169681
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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 RCV001980804 SCV002282759 uncertain significance not provided 2021-10-02 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. This variant has not been reported in the literature in individuals affected with PIGC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 86 of the PIGC protein (p.Leu86Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine.

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