ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2053-3C>T

gnomAD frequency: 0.00002  dbSNP: rs754983807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308965 SCV001498443 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-02-06 criteria provided, single submitter clinical testing 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. This sequence change falls in intron 11 of the INF2 gene. It does not directly change the encoded amino acid sequence of the INF2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs754983807, gnomAD 0.004%). 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: 1011202). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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