ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile)

gnomAD frequency: 0.00009  dbSNP: rs140548603
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680506 SCV001898165 benign not provided 2021-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001680506 SCV002393169 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253953 SCV002524777 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163790 SCV003876279 likely benign Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003956322 SCV004767764 likely benign AHDC1-related disorder 2023-03-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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