ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.677T>C (p.Leu226Pro)

gnomAD frequency: 0.00001  dbSNP: rs746710198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058387 SCV001222953 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 246 of the PEX10 protein (p.Leu246Pro). This variant is present in population databases (rs746710198, gnomAD 0.02%). 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: 853555). 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: "Possibly Damaging"; 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.

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