ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) (rs1465665122)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509082 SCV000606976 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000807419 SCV000947468 uncertain significance Hyperphosphatasia with mental retardation syndrome 2 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 676 of the PIGO protein (p.Ala676Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PIGO-related disease. ClinVar contains an entry for this variant (Variation ID: 440967). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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