ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3062C>T (p.Pro1021Leu)

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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 RCV004666101 SCV005162219 uncertain significance Inborn genetic diseases 2024-04-30 criteria provided, single submitter clinical testing The c.3062C>T (p.P1021L) alteration is located in exon 19 (coding exon 17) of the SETD5 gene. This alteration results from a C to T substitution at nucleotide position 3062, causing the proline (P) at amino acid position 1021 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. 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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