ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1102A>G (p.Met368Val)

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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 RCV003189784 SCV003879541 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.1102A>G (p.M368V) alteration is located in exon 11 (coding exon 9) of the SETD5 gene. This alteration results from a A to G substitution at nucleotide position 1102, causing the methionine (M) at amino acid position 368 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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