ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11447A>G (p.Asn3816Ser)

dbSNP: rs1283262632
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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 RCV003214938 SCV003902273 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.11468A>G (p.N3823S) alteration is located in exon 79 (coding exon 79) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 11468, causing the asparagine (N) at amino acid position 3823 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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