ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002897713 SCV003646737 uncertain significance Inborn genetic diseases 2022-10-05 criteria provided, single submitter clinical testing The c.4349C>T (p.P1450L) alteration is located in exon 6 (coding exon 1) of the AHDC1 gene. This alteration results from a C to T substitution at nucleotide position 4349, causing the proline (P) at amino acid position 1450 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140184 SCV003823053 uncertain significance AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-01-26 criteria provided, single submitter clinical testing
Dr.Nikuei Genetic Center RCV003140184 SCV005200299 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2024-06-27 criteria provided, single submitter clinical testing

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