ClinVar Miner

Submissions for variant NM_018419.3(SOX18):c.481C>T (p.Gln161Ter)

dbSNP: rs794728015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine RCV000184062 SCV000189850 pathogenic Hypotrichosis-lymphedema-telangiectasia syndrome 2014-10-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003556198 SCV004297367 likely pathogenic not provided 2023-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln161*) in the SOX18 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 224 amino acid(s) of the SOX18 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SOX18-related conditions (PMID: 26148450). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 162093). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on SOX18 function (PMID: 31358114). 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 RCV000184062 SCV000778500 pathogenic Hypotrichosis-lymphedema-telangiectasia syndrome 2018-06-14 no assertion criteria provided literature only

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