ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.429T>A (p.Phe143Leu)

dbSNP: rs2484705003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002787535 SCV003576920 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.429T>A (p.F143L) alteration is located in exon 4 (coding exon 4) of the PEX1 gene. This alteration results from a T to A substitution at nucleotide position 429, causing the phenylalanine (F) at amino acid position 143 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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