ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.411C>G (p.Leu137=)

gnomAD frequency: 0.00015  dbSNP: rs138967897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314540 SCV000848276 likely benign Inborn genetic diseases 2014-09-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000959992 SCV001106934 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000959992 SCV001913826 benign not provided 2020-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965481 SCV004778260 benign HUWE1-related condition 2019-10-16 criteria provided, single submitter 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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