ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)

gnomAD frequency: 0.00042  dbSNP: rs150681693
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000288021 SCV000372165 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001082274 SCV000765679 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734104 SCV000862217 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820902 SCV002065119 uncertain significance not specified 2017-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522198 SCV003595677 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.3944C>T (p.S1315L) alteration is located in exon 28 (coding exon 28) of the LRP4 gene. This alteration results from a C to T substitution at nucleotide position 3944, causing the serine (S) at amino acid position 1315 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000734104 SCV003842810 uncertain significance not provided 2022-09-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000734104 SCV004236270 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.