Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Robert's Program, |
RCV001787414 | SCV002030063 | uncertain significance | SUDDEN INFANT DEATH SYNDROME | 2021-10-01 | criteria provided, single submitter | research | We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant is a deleterious splicing variant, we suspect this variant is favoring pathogenic. |
Invitae | RCV001885210 | SCV002172954 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-01-23 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 22 of the FLNC gene. It does not directly change the encoded amino acid sequence of the FLNC protein. It affects a nucleotide within the consensus splice site. 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: 1327131). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). |