ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)

dbSNP: rs762985148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067079 SCV001232115 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1215Argfs*18) in the INF2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in INF2 cause disease. This variant is present in population databases (rs762985148, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with INF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 860714). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001067079 SCV002816102 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-09-08 criteria provided, single submitter clinical testing

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