ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) (rs121912824)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000019036 SCV000790786 pathogenic Alport syndrome, autosomal recessive 2017-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763473 SCV000894255 pathogenic Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000760446 SCV000890330 pathogenic not provided 2018-11-21 criteria provided, single submitter clinical testing The R1481X nonsense variant in the COL4A3 gene has been reported previously in association with autosomal recessive Alport syndrome (Mochizuki et al., 1994; Lemmink et al., 1994). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 1/15018 (0.0067%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
OMIM RCV000019036 SCV000039323 pathogenic Alport syndrome, autosomal recessive 1997-01-01 no assertion criteria provided literature only

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