ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)

gnomAD frequency: 0.00001  dbSNP: rs769288132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748665 SCV004511226 likely benign Jeune thoracic dystrophy 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004373982 SCV004860383 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.172G>C (p.A58P) alteration is located in exon 1 (coding exon 1) of the DYNC2H1 gene. This alteration results from a G to C substitution at nucleotide position 172, causing the alanine (A) at amino acid position 58 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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