ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3016G>T (p.Val1006Leu)

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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 RCV002897975 SCV003646260 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.3016G>T (p.V1006L) alteration is located in exon 19 (coding exon 17) of the SETD5 gene. This alteration results from a G to T substitution at nucleotide position 3016, causing the valine (V) at amino acid position 1006 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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