Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000319841 | SCV000367703 | likely benign | Acute intermittent porphyria | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001065053 | SCV001229991 | uncertain significance | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 of the HMBS gene. It does not directly change the encoded amino acid sequence of the HMBS protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs745705652, gnomAD 0.03%). This variant has been observed in individual(s) with HMBS-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 302730). 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. 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. |