ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.736A>T (p.Asn246Tyr)

gnomAD frequency: 0.00004  dbSNP: rs371787045
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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 RCV002023471 SCV002307001 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 246 of the PIGN protein (p.Asn246Tyr). This variant is present in population databases (rs371787045, gnomAD 0.01%). 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: 1515811). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV002548831 SCV003569195 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.736A>T (p.N246Y) alteration is located in exon 9 (coding exon 6) of the PIGN gene. This alteration results from a A to T substitution at nucleotide position 736, causing the asparagine (N) at amino acid position 246 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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