ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.518C>T (p.Thr173Met)

gnomAD frequency: 0.00049  dbSNP: rs80358306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827982 SCV000969656 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing Reported previously in association with familial exudative vitreoretinopathy, but the variant was inherited from an unaffected parent (Toomes et al., 2004; Li et al., 2018); Published functional studies demonstrate no damaging effect (Ai et al., 2005); This variant is associated with the following publications: (PMID: 22995991, 15923613, 16252235, 26348019, 15024691, 20340138, 24715757, 30452590)
Invitae RCV000827982 SCV001412502 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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