ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) (rs786204426)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169018 SCV000220162 likely pathogenic Pendred syndrome 2014-03-16 criteria provided, single submitter literature only
GeneDx RCV000579019 SCV000680757 pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing The c.3 G>C variant in the SLC26A4 gene has been reported previously in Pendred syndrome in an affected individual who was compound heterozygous for the c.3 G>C variant and another SLC26A4 variant (Banghova et al., 2008). The c.3 G>C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). As this variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. We interpret c.3 G>C as a pathogenic variant.

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