ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6109A>G (p.Ser2037Gly)

dbSNP: rs1861686754
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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 RCV002870195 SCV003641900 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.6109A>G (p.S2037G) alteration is located in exon 38 (coding exon 38) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 6109, causing the serine (S) at amino acid position 2037 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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