ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)

gnomAD frequency: 0.00168  dbSNP: rs192242889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729220 SCV000856862 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729220 SCV001037191 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000729220 SCV002586496 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing In silico analysis indicates 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 RCV004540042 SCV004762425 likely benign UNC80-related disorder 2024-06-06 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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