ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2435T>C (p.Leu812Ser)

gnomAD frequency: 0.00001  dbSNP: rs746967719
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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 RCV001350538 SCV001544944 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 812 of the PIGO protein (p.Leu812Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs746967719, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. 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 tolerated. 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 RCV004036628 SCV005005611 uncertain significance Inborn genetic diseases 2023-12-30 criteria provided, single submitter clinical testing The c.2435T>C (p.L812S) alteration is located in exon 7 (coding exon 6) of the PIGO gene. This alteration results from a T to C substitution at nucleotide position 2435, causing the leucine (L) at amino acid position 812 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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