ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.228C>T (p.Asn76=)

gnomAD frequency: 0.00078  dbSNP: rs140098686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579185 SCV000680798 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing The c.237 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.237 C>T variant is observed in 52/24,036 (0.2%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). Although in silico splice prediction models do not predict that c.237 C>T affects splicing, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080728 SCV001022183 likely benign Isovaleryl-CoA dehydrogenase deficiency 2024-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080728 SCV001456703 likely benign Isovaleryl-CoA dehydrogenase deficiency 2020-04-16 no assertion criteria provided clinical testing

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