ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.949A>C (p.Met317Leu)

gnomAD frequency: 0.00009  dbSNP: rs559464457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155677 SCV000205387 likely benign not specified 2013-04-26 criteria provided, single submitter clinical testing Met317Leu in exon 9 of NEXN: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , 2 mammalian species as well as 2 more distant species have the variant amino a cid at this position and most other species have isoleucine (Ile) despite high n earby amino acid conservation. In addition, computational analyses (AlignGVGD, P olyPhen2, SIFT) do not suggest a high likelihood of impact to the protein.
GeneDx RCV001697084 SCV000727762 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Invitae RCV000647288 SCV000769077 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2023-12-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170727 SCV001333330 benign Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372017 SCV002688207 benign Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing This alteration is classified as 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.

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