ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.808T>A (p.Ser270Thr)

gnomAD frequency: 0.00001  dbSNP: rs587777186
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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 RCV001351620 SCV001546110 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 270 of the PIGN protein (p.Ser270Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1046983). 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 disrupts the p.Ser270 amino acid residue in PIGN. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24253414, 26419326). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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