ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.371A>C (p.His124Pro)

gnomAD frequency: 0.00001  dbSNP: rs1553228218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652502 SCV000774372 uncertain significance Congenital myasthenic syndrome 15 2017-09-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ALG14-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with proline at codon 124 of the ALG14 protein (p.His124Pro). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and proline.

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