ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.310T>G (p.Tyr104Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003081375 SCV003458447 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 104 of the PEX10 protein (p.Tyr104Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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: "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 RCV003065409 SCV003619419 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.310T>G (p.Y104D) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a T to G substitution at nucleotide position 310, causing the tyrosine (Y) at amino acid position 104 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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