ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro)

dbSNP: rs1345938343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV006347698 SCV007216760 uncertain significance Inborn genetic diseases 2025-10-06 criteria provided, single submitter clinical testing The c.4745T>C (p.L1582P) alteration is located in exon 27 (coding exon 27) of the EPG5 gene. This alteration results from a T to C substitution at nucleotide position 4745, causing the leucine (L) at amino acid position 1582 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001332378 SCV001524691 uncertain significance Vici syndrome 2019-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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