ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.1626G>A (p.Pro542=)

gnomAD frequency: 0.00003  dbSNP: rs757610969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804236 SCV000944133 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change affects codon 542 of the SZT2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SZT2 protein. This variant also falls at the last nucleotide of exon 11, which is part of the consensus splice site for this exon. This variant is present in population databases (rs757610969, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 649326). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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