ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.814C>T (p.Gln272Ter) (rs1555475342)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579178 SCV000680755 pathogenic not provided 2017-11-27 criteria provided, single submitter clinical testing The Q272X nonsense variant in the SALL1 gene has been published in association with Townes-Brocks syndrome (Botzenhart et al., 2007). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the Q272X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is pathogenic.

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