ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.849C>T (p.Gly283=) (rs146030265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188047 SCV000241650 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing The c.849 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Several in-silico splice prediction models predict that c.849 C>T creates a cryptic splice donor site, which may supplant the natural donor/acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of a c.849 C>T sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Invitae RCV001080362 SCV000652158 benign Pyruvate dehydrogenase lipoic acid synthetase deficiency 2019-12-31 criteria provided, single submitter clinical testing

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