ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1499A>G (p.Gln500Arg)

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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 RCV004666102 SCV005162220 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.1499A>G (p.Q500R) alteration is located in exon 13 (coding exon 11) of the SETD5 gene. This alteration results from a A to G substitution at nucleotide position 1499, causing the glutamine (Q) at amino acid position 500 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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