ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.4_5delinsTT (p.Ala2Leu)

dbSNP: rs2124356650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876745 SCV002119072 uncertain significance Peroxisome biogenesis disorder, complementation group K 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2 of the PEX14 protein (p.Ala2Leu). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1356517). This variant has not been reported in the literature in individuals affected with PEX14-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

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