ClinVar Miner

Submissions for variant NM_198080.4(MSRB3):c.285-1G>A (rs201306709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509391 SCV000606912 not provided Hearing loss no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216815 SCV000271241 likely pathogenic Rare genetic deafness 2015-09-18 criteria provided, single submitter clinical testing The c.264-1G>A variant in MSRB3 has not been previously reported in individuals with hearing loss, but has been identified in 1/8604 of East Asian chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs201306709). Although this variant has been seen in the general population, it s frequency is low enough to be consistent with a recessive carrier frequency. T his variant occurs in the invariant region (+/- 1,2) of the splice consensus seq uence and is predicted to cause altered splicing leading to an abnormal or absen t protein. Two variants resulting in loss of function of the MSRB3 protein have been previously reported in individuals with hearing loss (Ahmed 2011), and a mo use model supports that loss of function of the MSRB3 protein is causative for p rofound hearing loss (Kwon 2014). In summary, although additional studies are re quired to fully establish its clinical significance, this variant is likely path ogenic.

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