ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6523G>A (p.Gly2175Ser)

dbSNP: rs2496272716
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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 RCV002911215 SCV003647722 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.6523G>A (p.G2175S) alteration is located in exon 41 (coding exon 41) of the DYNC2H1 gene. This alteration results from a G to A substitution at nucleotide position 6523, causing the glycine (G) at amino acid position 2175 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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