ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) (rs1275942023)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599399 SCV000710089 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing The c.4983_4988delCGTGAC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.4983_4988delCGTGAC variant results in the in-frame deletion of two amino acid residues at position 1662 and 1663, denoted p.Val1662_Thr1663del. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000599399 SCV001150500 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262125 SCV001439887 uncertain significance Mental retardation 3, X-linked 2019-01-01 criteria provided, single submitter clinical testing

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