ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)

gnomAD frequency: 0.00078  dbSNP: rs138269726
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000033108 SCV001288793 uncertain significance Donnai-Barrow 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.
Invitae RCV001362989 SCV001559058 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000033108 SCV002055098 uncertain significance Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001362989 SCV002512914 uncertain significance not provided 2022-04-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported previously in the heterozygous state in an individual with Dent disease (Gianesello et al., 2020); This variant is associated with the following publications: (PMID: 30152016, 31589614, 35026467, 31947599, 33921825, 25533962, 23033978)
OMIM RCV000033108 SCV000056889 pathogenic Donnai-Barrow syndrome 2012-11-15 no assertion criteria provided literature only
GenomeConnect - Invitae Patient Insights Network RCV000033108 SCV004228848 not provided Donnai-Barrow syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-27-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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