ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser)

dbSNP: rs1396494796
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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 RCV001298992 SCV001488065 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 577 of the PIGO protein (p.Leu577Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002547). 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. 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 RCV004036124 SCV005005607 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.1730T>C (p.L577S) 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 1730, causing the leucine (L) at amino acid position 577 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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