ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)

dbSNP: rs1358924141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318237 SCV000851519 uncertain significance Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing The p.A763V variant (also known as c.2288C>T), located in coding exon 8 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 2288. The alanine at codon 763 is replaced by valine, an amino acid with similar properties. 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.
Invitae RCV000810070 SCV000950257 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-08-23 criteria provided, single submitter clinical testing
GeneDx RCV001772019 SCV001994167 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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