ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr)

gnomAD frequency: 0.00157  dbSNP: rs34052957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000722280 SCV001062825 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000722280 SCV002757340 uncertain significance not provided 2022-11-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27527004, 26934580, 27377421, 23675308)
PreventionGenetics, part of Exact Sciences RCV003908015 SCV004719312 likely benign LRP2-related disorder 2022-05-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Gharavi Laboratory, Columbia University RCV000722280 SCV000853411 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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