ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr)

dbSNP: rs550344775
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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 RCV001048539 SCV001212551 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 364 of the PEX13 protein (p.Ala364Thr). This variant is present in population databases (rs550344775, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 845472). 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 threonine 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.
Ambry Genetics RCV002552644 SCV003712538 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.1090G>A (p.A364T) alteration is located in exon 4 (coding exon 4) of the PEX13 gene. This alteration results from a G to A substitution at nucleotide position 1090, causing the alanine (A) at amino acid position 364 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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