ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1544+1G>A (rs876657722)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213351 SCV000271451 pathogenic Rare genetic deafness 2018-01-16 criteria provided, single submitter clinical testing The c.1544+1G>A variant in SLC26A4 has been identified by our lab in 1 individua l with hearing loss and was absent from large population studies. This variant h as been reported in ClinVar (Variation ID: 228395). This variant occurs in the i nvariant region (+/- 1/2) of the splice consensus sequence and is predicted to c ause altered splicing leading to an abnormal or absent protein. Loss of function of the SLC26A4 gene is an established disease mechanism in autosomal recessive hearing loss. In summary, the c.1544+1G>A variant meets criteria to be classifie d as pathogenic for hearing loss in an autosomal recessive manner. ACMG/AMP Crit eria applied: PVS1, PM2, PM4.
Counsyl RCV000412149 SCV000485602 likely pathogenic Pendred syndrome 2016-01-11 criteria provided, single submitter clinical testing

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