ClinVar Miner

Submissions for variant NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro)

dbSNP: rs2149064005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003660897 SCV004376548 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt SYT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1192313). This missense change has been observed in individual(s) with congenital myasthenic syndrome (PMID: 34037996). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 365 of the SYT2 protein (p.Leu365Pro).
OMIM RCV001553805 SCV001774825 pathogenic Congenital myasthenic syndrome 7 2021-08-06 no assertion criteria provided literature only

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