ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.655C>A (p.Leu219Met)

gnomAD frequency: 0.00003  dbSNP: rs763882898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002114608 SCV002444477 likely benign not provided 2024-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003070597 SCV003717173 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.655C>A (p.L219M) alteration is located in exon 7 (coding exon 6) of the PRPF31 gene. This alteration results from a C to A substitution at nucleotide position 655, causing the leucine (L) at amino acid position 219 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004757525 SCV005352957 likely benign PRPF31-related disorder 2024-04-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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