ClinVar Miner

Submissions for variant NM_001481.3(GAS8):c.841G>C (p.Asp281His)

gnomAD frequency: 0.00058  dbSNP: rs139167960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652674 SCV000774545 likely benign Primary ciliary dyskinesia 33 2024-01-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000652674 SCV001526663 uncertain significance Primary ciliary dyskinesia 33 2018-06-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003313128 SCV004012433 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003953198 SCV004767440 likely benign GAS8-related condition 2023-06-05 criteria provided, single submitter 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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