ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.446C>T (p.Thr149Met)

gnomAD frequency: 0.00003  dbSNP: rs764948458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378264 SCV000343590 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV001859699 SCV002191786 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 149 of the PEX10 protein (p.Thr149Met). 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: 289259). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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