Submissions for variant NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) (rs1566996726)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768202	SCV000898653	uncertain significance	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13	2018-08-31	criteria provided, single submitter	clinical testing	DYNC1H1 NM_001376.4 exon 5 p.Lys305= (c.915A>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Centre for Mendelian Genomics,University Medical Centre Ljubljana	RCV001196027	SCV001366456	uncertain significance	Global developmental delay; Tapered finger; Pes planus; Delayed speech and language development; Microcephaly; Generalized hypotonia	2019-02-21	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3. This variant was detected in heterozygous state.