ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2930-4G>A

gnomAD frequency: 0.00004  dbSNP: rs780736141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466156 SCV000563181 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436519 SCV002746068 uncertain significance Inborn genetic diseases 2019-05-12 criteria provided, single submitter clinical testing The c.2930-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 21 in the SZT2 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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