ClinVar Miner

Submissions for variant NM_014975.3(MAST1):c.278C>T (p.Ser93Leu)

dbSNP: rs878853165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000224975 SCV000281767 likely pathogenic not provided 2016-05-12 criteria provided, single submitter research
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287395 SCV002578164 uncertain significance Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 2022-09-27 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000224975 SCV004026168 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing PM2_SUP, PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV000224975 SCV005837866 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 93 of the MAST1 protein (p.Ser93Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of MAST1-related conditions (PMID: 28554332). ClinVar contains an entry for this variant (Variation ID: 235895). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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