ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.361C>A (p.Pro121Thr)

gnomAD frequency: 0.00011  dbSNP: rs1056200158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001974288 SCV002266457 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 121 of the PEX10 protein (p.Pro121Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1478652). 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. 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.
Ambry Genetics RCV004042371 SCV005003556 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.361C>A (p.P121T) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a C to A substitution at nucleotide position 361, causing the proline (P) at amino acid position 121 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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