ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.3199A>T (p.Met1067Leu)

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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 RCV002891430 SCV003642944 uncertain significance Inborn genetic diseases 2022-09-01 criteria provided, single submitter clinical testing The c.3199A>T (p.M1067L) alteration is located in exon 21 (coding exon 20) of the PRPF8 gene. This alteration results from an A to T substitution at nucleotide position 3199, causing the methionine (M) at amino acid position 1067 to be replaced by a leucine (L). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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