ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.139G>C (p.Val47Leu)

gnomAD frequency: 0.00011  dbSNP: rs375744259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689553 SCV000817208 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 47 of the PIGN protein (p.Val47Leu). This variant is present in population databases (rs375744259, gnomAD 0.02%). 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: 569026). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIGN protein function. 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.
GeneDx RCV001766477 SCV002000777 uncertain significance not provided 2024-08-16 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002388222 SCV002700751 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.139G>C (p.V47L) alteration is located in exon 4 (coding exon 1) of the PIGN gene. This alteration results from a G to C substitution at nucleotide position 139, causing the valine (V) at amino acid position 47 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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