ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7745C>T (p.Ser2582Leu)

dbSNP: rs1043120692
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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 RCV004379894 SCV004860428 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.7745C>T (p.S2582L) alteration is located in exon 48 (coding exon 48) of the DYNC2H1 gene. This alteration results from a C to T substitution at nucleotide position 7745, causing the serine (S) at amino acid position 2582 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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