ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.157_158del (p.Ser53fs)

dbSNP: rs1384671249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388074 SCV001588914 pathogenic Peroxisome biogenesis disorder, complementation group 7 2022-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser53Argfs*67) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596).
Ambry Genetics RCV002551563 SCV003746176 pathogenic Inborn genetic diseases 2021-04-15 criteria provided, single submitter clinical testing The c.157_158delTC (p.S53Rfs*67) alteration, located in exon 2 (coding exon 2) of the PEX10 gene, consists of a deletion of 2 nucleotides from position 157 to 158, causing a translational frameshift with a predicted alternate stop codon after 67 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV003473984 SCV004203403 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2023-10-22 criteria provided, single submitter clinical testing

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