ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)

dbSNP: rs1555373261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534855 SCV000652077 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-09-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt INF2 protein function. ClinVar contains an entry for this variant (Variation ID: 472837). This missense change has been observed in individuals with clinical features of INF2-related conditions (PMID: 28780565; Invitae). It has also been observed to segregate with disease in related individuals. This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 50 of the INF2 protein (p.Tyr50Asp).

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