ClinVar Miner

Submissions for variant NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)

dbSNP: rs1057517665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000412561 SCV001430743 uncertain significance Congenital myasthenic syndrome 21 2020-05-27 criteria provided, single submitter research The heterozygous p.Gly186Ala variant in SLC18A3 was identified by our study, in the compound heterozygous state, along with a pathogenic deletion, in an individual with autosomal recessive congenital myasthenic syndrome (PMID: 27590285). It is of note that the deletion spans across at least 5 genes including SLC18A3. The p.Gly186Ala variant has been reported pathogenic by OMIM in ClinVar (Variation ID: 372159) and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine impact. Furthermore, although this gene has been reported in association with congenital myasthenic syndrome, it currently has moderate evidence for these associations. In summary, the clinical significance of the p.Gly186Ala variant is uncertain.
OMIM RCV000412561 SCV000490232 pathogenic Congenital myasthenic syndrome 21 2016-12-06 no assertion criteria provided literature only

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