ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.104G>C (p.Ser35Thr)

dbSNP: rs2100441138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001943818 SCV002196228 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2020-10-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PEX10-related conditions. 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 sequence change replaces serine with threonine at codon 35 of the PEX10 protein (p.Ser35Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine.

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