ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3047G>A (p.Gly1016Glu)

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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 RCV003195083 SCV003891725 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.3047G>A (p.G1016E) alteration is located in exon 19 (coding exon 17) of the SETD5 gene. This alteration results from a G to A substitution at nucleotide position 3047, causing the glycine (G) at amino acid position 1016 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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