ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1588G>A (p.Val530Met)

gnomAD frequency: 0.00007  dbSNP: rs369984449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220149 SCV001392125 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402659 SCV002708350 likely benign Inborn genetic diseases 2021-02-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV001220149 SCV002776031 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-12-02 criteria provided, single submitter clinical testing

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