ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1544+5G>A

dbSNP: rs1057521147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431089 SCV000521213 likely pathogenic not provided 2017-01-05 criteria provided, single submitter clinical testing The c.1544+5 G>A variant has been published previously in association with non-syndromic hearing loss (Yuan et al., 2012); however, clinical information on the patient in this study was not provided. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1544+5 G>A destroys the natural splice donor site of intron 13. However, in the absence of RNA/functional studies, the actual effect of this non-canonical splice variant is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796178 SCV005416678 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS3+PM3_Supporting

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