ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) (rs761518401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670065 SCV000794878 uncertain significance Alport syndrome, autosomal recessive 2017-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001766446 SCV001989053 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing Reported with a mosaic COL4A5 variant in a patient with Alport syndrome in published literature; this variant was present in the patient's unaffected father and sister (Yokota et al., 2016); 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: 27796712, 31312776, 33229591)

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