ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.10609C>G (p.Pro3537Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002660089 SCV003535050 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.10609C>G (p.P3537A) alteration is located in exon 63 (coding exon 62) of the HYDIN gene. This alteration results from a C to G substitution at nucleotide position 10609, causing the proline (P) at amino acid position 3537 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992717 SCV004809432 uncertain significance Primary ciliary dyskinesia 5 2024-04-04 criteria provided, single submitter clinical testing

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