Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044313 | SCV001208104 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2023-05-05 | 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. 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 may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 841984). This variant has been observed in individual(s) with clinical features of IGHMBP2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the IGHMBP2 gene. It does not directly change the encoded amino acid sequence of the IGHMBP2 protein. It affects a nucleotide within the consensus splice site. |