ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys)

dbSNP: rs1253557298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790992 SCV000930252 uncertain significance Cenani-Lenz syndactyly syndrome 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790993 SCV000930253 uncertain significance Congenital myasthenic syndrome 17 2019-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258967 SCV003979884 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.3346G>A (p.E1116K) alteration is located in exon 24 (coding exon 24) of the LRP4 gene. This alteration results from a G to A substitution at nucleotide position 3346, causing the glutamic acid (E) at amino acid position 1116 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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