ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs) (rs869320721)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381401 SCV001579779 pathogenic not provided 2020-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg158Glnfs*4) in the SLC4A11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive SLC4A11-related conditions (PMID: 17220209, 17679935). ClinVar contains an entry for this variant (Variation ID: 1312). Loss-of-function variants in SLC4A11 are known to be pathogenic (PMID: 17220209, 17679935). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001375 SCV000021525 pathogenic Corneal dystrophy-perceptive deafness syndrome 2007-05-01 no assertion criteria provided literature only

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