ClinVar Miner

Submissions for variant NM_173628.4(DNAH17):c.2879C>G (p.Thr960Arg)

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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 RCV002705166 SCV003739254 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.2879C>G (p.T960R) alteration is located in exon 20 (coding exon 19) of the DNAH17 gene. This alteration results from a C to G substitution at nucleotide position 2879, causing the threonine (T) at amino acid position 960 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003326657 SCV004033592 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing DNAH17: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003919001 SCV004736329 benign DNAH17-related disorder 2019-06-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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