ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6957T>G (p.Ser2319Arg)

gnomAD frequency: 0.00002  dbSNP: rs1394799972
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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 RCV002665974 SCV003540142 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.6957T>G (p.S2319R) alteration is located in exon 43 (coding exon 43) of the DYNC2H1 gene. This alteration results from a T to G substitution at nucleotide position 6957, causing the serine (S) at amino acid position 2319 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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