ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5818A>G (p.Ser1940Gly)

gnomAD frequency: 0.00001  dbSNP: rs115156486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034382 SCV001197724 benign Luscan-Lumish syndrome 2020-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552056 SCV003548471 uncertain significance Inborn genetic diseases 2020-10-14 criteria provided, single submitter clinical testing The c.5818A>G (p.S1940G) alteration is located in exon 12 (coding exon 12) of the SETD2 gene. This alteration results from an A to G substitution at nucleotide position 5818, causing the serine (S) at amino acid position 1940 to be replaced by a glycine (G). Based on data from the Genome Aggregation Database (gnomAD) database, the SETD2 c.5818A>G alteration was observed in 0.0008% (2/251326) of total alleles studied. This amino acid position is not well conserved in available vertebrate species. The p.S1940G alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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