ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.568G>A (p.Glu190Lys)

dbSNP: rs1566996419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317604 SCV000851177 uncertain significance Inborn genetic diseases 2017-07-11 criteria provided, single submitter clinical testing The p.E190K variant (also known as c.568G>A), located in coding exon 4 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 568. The glutamic acid at codon 190 is replaced by lysine, an amino acid with similar properties. This variant has been determined to be the result of a de novo mutation or germline mosaicism in one family with an isolated case of DYNC1H1-related neurological disorder. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
New York Genome Center RCV001281474 SCV001468782 uncertain significance Seizure; Intellectual disability 2019-07-17 criteria provided, single submitter clinical testing

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