ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.44T>C (p.Leu15Pro)

gnomAD frequency: 0.00030  dbSNP: rs200010109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042460 SCV001206141 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552508 SCV003679462 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.44T>C (p.L15P) alteration is located in exon 1 (coding exon 1) of the CYP4V2 gene. This alteration results from a T to C substitution at nucleotide position 44, causing the leucine (L) at amino acid position 15 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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