ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1450A>G (p.Asn484Asp)

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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 RCV003374544 SCV004094665 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.1450A>G (p.N484D) 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 1450, causing the asparagine (N) at amino acid position 484 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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