ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2218A>C (p.Met740Leu)

dbSNP: rs2033907844
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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 RCV001932738 SCV002173075 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-02-10 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine with leucine at codon 740 of the PIGN protein (p.Met740Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine.

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