ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.191C>T (p.Ser64Leu)

gnomAD frequency: 0.00001  dbSNP: rs753195443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352191 SCV001546728 uncertain significance Congenital myasthenic syndrome 15 2022-06-20 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1047475). This variant has not been reported in the literature in individuals affected with ALG14-related conditions. This variant is present in population databases (rs753195443, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 64 of the ALG14 protein (p.Ser64Leu).

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