ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs397514500
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Total submissions: 8
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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 Autosomal recessive nonsyndromic hearing loss 18A 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; Autosomal recessive nonsyndromic hearing loss 18A 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV001377937 SCV001575393 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 103 of the USH1C protein (p.Arg103His). This variant is present in population databases (rs397514500, gnomAD 0.008%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 16679490, 21487335, 21569298). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39427). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects USH1C function (PMID: 20142502). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000662094 SCV004207636 pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-09-20 criteria provided, single submitter clinical testing
OMIM RCV000032622 SCV000056385 pathogenic Usher syndrome type 1C 2011-09-01 no assertion criteria provided literature only
Natera, Inc. RCV000032622 SCV002080246 likely pathogenic Usher syndrome type 1C 2020-07-14 no assertion criteria provided clinical testing

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