ClinVar Miner

Submissions for variant NC_000015.10:g.43611494_43611509del

dbSNP: rs1555447538
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616450 SCV000712101 likely pathogenic Rare genetic deafness 2016-08-02 criteria provided, single submitter clinical testing The c.3128_3138+5del variant in STRC has been reported in one individual with he aring loss (Mandelker 2014, LMM data). Data from large population studies are i nsufficient to assess the frequency of this variant. This variant is a deletion of 16 nucleotides encompassing 11 nucleotides of exon 12 and 5 nucleotides of in tron 12, which includes the invariant region (+/- 1/2) of the splice consensus s equence. This deletion is predicted to cause altered splicing leading to an abno rmal or absent protein. Loss-of-function variants in the STRC gene are causative for autosomal recessive hearing loss. In summary, although additional studies a re required to fully establish its clinical significance, this variant is likely pathogenic.

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