ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2014-1G>A (rs150567427)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155314 SCV000205000 uncertain significance not specified 2014-04-11 criteria provided, single submitter clinical testing The 2014-1G>A variant in USH1C has not been previously reported in individuals w ith hearing loss. It was identified in 0.5% (22/4400) of African American chromo somes by the NHLBI Exome Sequencing Project and in 1.6% (2/122) of African Ameri can chromosomes by the 1000 Genomes Project (; dbSNP rs150567427). Although this variant has been seen in the general populati on, its frequency is not high enough to rule out a pathogenic role. This variant occurs in the invariant region (-1/2) of the 3? splice consensus sequence and c omputational tools suggest an impact to splicing. In summary, while this variant may impact splicing, its frequency in the general population suggests a benign role; therefore, additional information is needed to determine the clinical sign ificance of the 2014-1G>A variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725400 SCV000336668 uncertain significance not provided 2016-01-20 criteria provided, single submitter clinical testing
Invitae RCV000725400 SCV001062319 benign not provided 2018-12-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004553 SCV001163632 pathogenic Usher syndrome type 1 criteria provided, single submitter clinical testing
GeneDx RCV000725400 SCV001756164 benign not provided 2019-07-26 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign to our knowledge

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