ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3612G>A (p.Ser1204=)

gnomAD frequency: 0.00134  dbSNP: rs150811244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558991 SCV000652119 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289007 SCV001476495 benign not specified 2019-10-10 criteria provided, single submitter clinical testing
GeneDx RCV001613362 SCV001833212 benign not provided 2020-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456223 SCV002617708 likely benign Inborn genetic diseases 2019-07-11 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.
PreventionGenetics, part of Exact Sciences RCV003935496 SCV004747864 likely benign INF2-related condition 2019-12-19 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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