ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu)

dbSNP: rs375292548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496178 SCV001700870 likely benign Myasthenic syndrome, congenital, 22 2021-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303085 SCV004003794 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.1865G>T (p.R622L) alteration is located in exon 11 (coding exon 11) of the PREPL gene. This alteration results from a G to T substitution at nucleotide position 1865, causing the arginine (R) at amino acid position 622 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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