ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1318A>G (p.Arg440Gly)

dbSNP: rs1566997890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318333 SCV000851729 uncertain significance Inborn genetic diseases 2017-05-26 criteria provided, single submitter clinical testing The p.R440G variant (also known as c.1318A>G), located in coding exon 7 of the DYNC1H1 gene, results from an A to G substitution at nucleotide position 1318. The arginine at codon 440 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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