ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.23C>A (p.Pro8His)

dbSNP: rs2100441590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948818 SCV002217386 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-07-09 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 8 of the PEX10 protein (p.Pro8His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with PEX10-related conditions. 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: "Tolerated"; 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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