ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2279C>T (p.Ser760Leu)

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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 RCV004455563 SCV004948624 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.2279C>T (p.S760L) alteration is located in exon 16 (coding exon 14) of the SETD5 gene. This alteration results from a C to T substitution at nucleotide position 2279, causing the serine (S) at amino acid position 760 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 alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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