ClinVar Miner

Submissions for variant NM_152713.5(STT3A):c.1877T>C (p.Val626Ala)

dbSNP: rs587777216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556159 SCV004294996 likely pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 626 of the STT3A protein (p.Val626Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital disorder of glycosylation (PMID: 23842455, 28424003). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 102443). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STT3A protein function with a negative predictive value of 80%. Studies have shown that this missense change alters STT3A gene expression (PMID: 23842455). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000088679 SCV000121601 pathogenic STT3A-congenital disorder of glycosylation 2013-11-15 no assertion criteria provided literature only

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