ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.960C>G (p.Ile320Met)

gnomAD frequency: 0.00005  dbSNP: rs371260973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002002251 SCV002227531 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 340 of the PEX10 protein (p.Ile340Met). This variant is present in population databases (rs371260973, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1448457). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003401955 SCV004105285 uncertain significance PEX10-related disorder 2022-12-21 criteria provided, single submitter clinical testing The PEX10 c.1020C>G variant is predicted to result in the amino acid substitution p.Ile340Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-2337226-G-C). 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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