ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) (rs121912824)

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Total submissions: 6
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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
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.
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
Invitae RCV000760446 SCV001380340 pathogenic not provided 2019-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1481*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121912824, ExAC 0.009%). This variant has been observed in several individuals affected with autosomal recessive Alport syndrome (PMID: 9195222, 29854973). ClinVar contains an entry for this variant (Variation ID: 17484). Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019036 SCV000039323 pathogenic Alport syndrome, autosomal recessive 1997-01-01 no assertion criteria provided literature only
Natera, Inc. RCV001273243 SCV001456040 pathogenic Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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