ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile)

gnomAD frequency: 0.00004  dbSNP: rs371089504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733470 SCV000861544 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV003117535 SCV003788458 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 841 of the PIGO protein (p.Thr841Ile). This variant is present in population databases (rs371089504, gnomAD 0.03%). 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: 597375). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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.
Ambry Genetics RCV004027064 SCV005005612 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.2522C>T (p.T841I) alteration is located in exon 7 (coding exon 6) of the PIGO gene. This alteration results from a C to T substitution at nucleotide position 2522, causing the threonine (T) at amino acid position 841 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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