ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.996T>G (p.Ile332Met) (rs1060499763)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454324 SCV000537969 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000578405 SCV000746941 likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000578405 SCV001496512 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2020-03-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 332 of the PIGN protein (p.Ile332Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of PIGN-congenital disorder of glycosylation (PMID: 26539891). ClinVar contains an entry for this variant (Variation ID: 402190). 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 C0). 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.
Institute of Human Genetics, Klinikum rechts der Isar RCV000578405 SCV000680336 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1 2017-12-06 no assertion criteria provided clinical testing

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