Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649971 | SCV000771808 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-03-04 | 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. ClinVar contains an entry for this variant (Variation ID: 540048). This variant has not been reported in the literature in individuals affected with INF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr50*) 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. |
Ambry Genetics | RCV003162976 | SCV003898834 | uncertain significance | Inborn genetic diseases | 2023-03-14 | criteria provided, single submitter | clinical testing | The c.150C>A (p.Y50*) alteration, located in exon 2 (coding exon 1) of the INF2 gene, consists of a C to A substitution at nucleotide position 150. This changes the amino acid from a tyrosine (Y) to a stop codon at amino acid position 50. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of INF2 has not been established as a mechanism of disease. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |