ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.308G>A (p.Arg103His) (rs397514500)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000032622 SCV000784433 likely pathogenic Usher syndrome, type 1C 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662094 SCV000784434 likely pathogenic Deafness, autosomal recessive 18 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662095 SCV000784435 likely pathogenic Usher syndrome type 1 2018-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000675046 SCV000800479 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV001377937 SCV001575393 likely pathogenic not provided 2020-07-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 103 of the USH1C protein (p.Arg103His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 16679490, 21569298, 21487335). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 39427). This variant has been reported to affect USH1C protein function (PMID: 20142502). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000032622 SCV000056385 pathogenic Usher syndrome, type 1C 2011-09-01 no assertion criteria provided literature only

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