ClinVar Miner

Submissions for variant NM_001042616.3(PIGY):c.151A>G (p.Ile51Val)

gnomAD frequency: 0.00017  dbSNP: rs201457617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332724 SCV001525120 uncertain significance Hyperphosphatasia with intellectual disability syndrome 6 2019-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865767 SCV002142189 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 51 of the PIGY protein (p.Ile51Val). This variant is present in population databases (rs201457617, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PIGY-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031009). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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