ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) (rs794727634)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178163 SCV000230170 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
Invitae RCV000548783 SCV000651666 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 251 of the DYNC1H1 protein (p.Arg251His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with autosomal dominant hereditary motor neuropathy and has been reported to segregate with disease in multiple families (PMID: 26392352, Invitae). ClinVar contains an entry for this variant (Variation ID: 197195). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV000623418 SCV000742400 uncertain significance Inborn genetic diseases 2017-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Kariminejad - Najmabadi Pathology & Genetics Center RCV000850072 SCV000992237 likely pathogenic Spinal muscular atrophy 2018-08-22 criteria provided, single submitter clinical testing

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