ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe)

gnomAD frequency: 0.00001  dbSNP: rs375220795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523365 SCV000619284 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing The L1501F variant in the LRP4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L1501F variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1501F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L1501F as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002490911 SCV002787413 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-01-04 criteria provided, single submitter clinical testing

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