ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6068A>T (p.Asp2023Val)

dbSNP: rs2496235938
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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 RCV002757210 SCV003574538 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.6068A>T (p.D2023V) alteration is located in exon 38 (coding exon 38) of the DYNC2H1 gene. This alteration results from a A to T substitution at nucleotide position 6068, causing the aspartic acid (D) at amino acid position 2023 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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