ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10117T>C (p.Ser3373Pro)

dbSNP: rs2152591676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823538 SCV002073046 uncertain significance Intellectual disability, autosomal dominant 13 criteria provided, single submitter clinical testing The missense variant p.S3373P in DYNC1H1 (NM_001376.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.S3373P variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.S3373P missense variant is predicted to be damaging by both SIFT and PolyPhen2. The serine residue at codon 3373 of DYNC1H1 is conserved in all mammalian species. The nucleotide c.10117 in DYNC1H1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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