ClinVar Miner

Submissions for variant NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) (rs374963432)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844624 SCV000065131 pathogenic Rare genetic deafness 2011-05-17 criteria provided, single submitter clinical testing The Ala123Asp variant has been reported in two individuals with Usher syndrome a nd was absent from 566 control chromosomes (Ebermann 2007, Isosomppi 2009). In a ddition, functional studies showed that the variant protein is not correctly loc alized in the cell and is rapidly degraded (Isosomppi 2009). In summary, this da ta meets our criteria to classify this variant as pathogenic.
Counsyl RCV000041436 SCV000220455 likely pathogenic Usher syndrome, type 3A 2014-06-27 criteria provided, single submitter literature only
Baylor Genetics RCV000041436 SCV001162963 likely pathogenic Usher syndrome, type 3A criteria provided, single submitter clinical testing
Invitae RCV001071445 SCV001236751 pathogenic not provided 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 123 of the CLRN1 protein (p.Ala123Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs374963432, ExAC 0.04%). This variant has been observed in individuals affected with Usher syndrome (PMID: 19753315, 7407589, 27460420). This gene is also known as USH3A in the literature. ClinVar contains an entry for this variant (Variation ID: 48146). This variant has been reported to affect CLRN1 protein function (PMID: 19753315). For these reasons, this variant has been classified as Pathogenic.

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