ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8486G>T (p.Gly2829Val)

dbSNP: rs761470844
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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 RCV002752253 SCV003575992 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.8486G>T (p.G2829V) alteration is located in exon 53 (coding exon 53) of the DYNC2H1 gene. This alteration results from a G to T substitution at nucleotide position 8486, causing the glycine (G) at amino acid position 2829 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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