ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.596C>T (p.Thr199Met)

gnomAD frequency: 0.00002  dbSNP: rs373559391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876972 SCV002127919 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-09 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 199 of the PEX10 protein (p.Thr199Met). This variant is present in population databases (rs373559391, gnomAD 0.007%). 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: 1370083). 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: "Probably 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.
Ambry Genetics RCV005397085 SCV006049530 uncertain significance Inborn genetic diseases 2024-12-25 criteria provided, single submitter clinical testing The c.596C>T (p.T199M) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a C to T substitution at nucleotide position 596, causing the threonine (T) at amino acid position 199 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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