ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln)

gnomAD frequency: 0.00001  dbSNP: rs1190944217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001107776 SCV001264954 uncertain significance Cenani-Lenz syndactyly syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV005047314 SCV005683189 likely pathogenic Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-04-30 criteria provided, single submitter clinical testing

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