ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.7780+2C>T (rs760108842)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598280 SCV000704389 likely pathogenic not provided 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000598280 SCV000681277 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The c.7780+2C>T variant in the LYST gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.7780+2C>T in this individual is unknown. The c.7780+2C>T variant is observed in 6/30782 (0.02%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). We interpret c.7780+2C>T as a variant of uncertain significance.

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