ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)

dbSNP: rs1555373599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543208 SCV000652132 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-12-06 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Charcot-Marie-Tooth (CMT) and focal segmental glomerulosclerosis (PMID: 22187985; Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 472868). This variant is not present in population databases (gnomAD no frequency). This variant, c.490_498del, results in the deletion of 3 amino acid(s) of the INF2 protein (p.Ala164_Asp166del), but otherwise preserves the integrity of the reading frame.
OMIM RCV002286575 SCV000045145 pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2011-12-22 no assertion criteria provided literature only

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