ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser)

gnomAD frequency: 0.00009  dbSNP: rs370230435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470893 SCV000553364 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000470893 SCV002005216 uncertain significance not provided 2021-05-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002349981 SCV002651005 uncertain significance Inborn genetic diseases 2019-04-03 criteria provided, single submitter clinical testing The p.A1832S variant (also known as c.5494G>T), located in coding exon 39 of the SZT2 gene, results from a G to T substitution at nucleotide position 5494. The alanine at codon 1832 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003970291 SCV004781342 likely benign SZT2-related condition 2022-02-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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