ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9496C>G (p.Gln3166Glu)

gnomAD frequency: 0.00003  dbSNP: rs745823828
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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 RCV002648436 SCV003529776 uncertain significance Inborn genetic diseases 2021-04-28 criteria provided, single submitter clinical testing The c.9496C>G (p.Q3166E) alteration is located in exon 61 (coding exon 61) of the DYNC2H1 gene. This alteration results from a C to G substitution at nucleotide position 9496, causing the glutamine (Q) at amino acid position 3166 to be replaced by a glutamic acid (E). Based on data from the Genome Aggregation Database (gnomAD) database, the DYNC2H1 c.9496C>G alteration was observed in 0.0014% (3/216,986) of total alleles studied, with a frequency of 0.003% (3/93,014) in the European (non-Finnish) subpopulation. This amino acid position is highly conserved in available vertebrate species. The p.Q3166E alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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