ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)

dbSNP: rs1366021609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008745 SCV001168526 likely pathogenic not provided 2019-02-14 criteria provided, single submitter clinical testing The L1418X variant in the STRC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The L1418X variant is not observed in large population cohorts (Lek et al., 2016). We interpret L1418X as a likely pathogenic variant.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001250803 SCV001426286 pathogenic Autosomal recessive nonsyndromic hearing loss 16 2020-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001250803 SCV002762966 pathogenic Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing

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