ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13568del (p.Asn4523fs)

dbSNP: rs1685554004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001290362 SCV001478413 likely pathogenic Donnai-Barrow syndrome 2021-01-29 criteria provided, single submitter clinical testing This frameshift variant results in a premature stop codon, likely leading to nonsense-mediated decay and lack of protein production. LRP2 c.13568delA is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. We consider this variant to be likely pathogenic.

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