ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)

dbSNP: rs786205153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000170320 SCV002059482 uncertain significance Congenital myasthenic syndrome 17 2021-04-14 criteria provided, single submitter clinical testing
Invitae RCV001850415 SCV002293825 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-05-11 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. Experimental studies have shown that this variant affects LRP4 protein function (PMID: 24234652). This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 24234652). ClinVar contains an entry for this variant (Variation ID: 189820). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1233 of the LRP4 protein (p.Glu1233Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
OMIM RCV000170320 SCV000222707 pathogenic Congenital myasthenic syndrome 17 2014-04-01 no assertion criteria provided literature only

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