ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)

gnomAD frequency: 0.00070  dbSNP: rs147706488
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179889 SCV000232206 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000690356 SCV000818038 likely benign Peroxisome biogenesis disorder, complementation group K 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764928 SCV000896100 uncertain significance Peroxisome biogenesis disorder 13A (Zellweger) 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516805 SCV003544507 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.575C>G (p.A192G) alteration is located in exon 7 (coding exon 7) of the PEX14 gene. This alteration results from a C to G substitution at nucleotide position 575, causing the alanine (A) at amino acid position 192 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003917676 SCV004743869 uncertain significance PEX14-related disorder 2023-12-08 no assertion criteria provided clinical testing The PEX14 c.575C>G variant is predicted to result in the amino acid substitution p.Ala192Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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