ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1193A>G (p.Tyr398Cys)

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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 RCV004971029 SCV005495734 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The c.1193A>G (p.Y398C) alteration is located in exon 12 (coding exon 10) of the SETD5 gene. This alteration results from a A to G substitution at nucleotide position 1193, causing the tyrosine (Y) at amino acid position 398 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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