ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.773G>C (p.Gly258Ala)

gnomAD frequency: 0.00001  dbSNP: rs1030087734
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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 RCV001983182 SCV002243884 uncertain significance Peroxisome biogenesis disorder 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 258 of the PEX6 protein (p.Gly258Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1460897). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
PreventionGenetics, part of Exact Sciences RCV004552137 SCV004110503 uncertain significance PEX6-related disorder 2022-12-29 criteria provided, single submitter clinical testing The PEX6 c.773G>C variant is predicted to result in the amino acid substitution p.Gly258Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-42946116-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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