ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.170A>G (p.Asp57Gly)

gnomAD frequency: 0.00003  dbSNP: rs745318716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703436 SCV000832335 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 57 of the PIGN protein (p.Asp57Gly). This variant is present in population databases (rs745318716, gnomAD 0.05%). 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: 580016). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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, University of Leipzig Medical Center RCV000703436 SCV001429509 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2017-12-05 criteria provided, single submitter clinical testing This variant was identified as homozygous
Revvity Omics, Revvity RCV000703436 SCV003808348 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362913 SCV004056124 uncertain significance Inborn genetic diseases 2023-08-19 criteria provided, single submitter clinical testing The c.170A>G (p.D57G) alteration is located in exon 4 (coding exon 1) of the PIGN gene. This alteration results from a A to G substitution at nucleotide position 170, causing the aspartic acid (D) at amino acid position 57 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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