Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV000668991 | SCV002060261 | pathogenic | Fanconi anemia complementation group A | 2021-11-16 | criteria provided, single submitter | clinical testing | NM_000135.2(FANCA):c.1A>C(M1?) is an initiation codon variant classified as pathogenic in the context of Fanconi anemia complementation group A. M1? has been observed in cases with relevant disease (PMID: 29098742). Functional assessments of this variant are not available in the literature. M1? has been observed in population frequency databases (gnomAD: AMR 0.01%). In summary, NM_000135.2(FANCA):c.1A>C(M1?) is an initiation codon variant in a gene where loss of function is a known mechanism of disease and is predicted to disrupt protein function. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV001861771 | SCV002122788 | pathogenic | Fanconi anemia | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the FANCA mRNA. The next in-frame methionine is located at codon 116. This variant is present in population databases (rs772751654, gnomAD 0.009%). Disruption of the initiator codon has been observed in individuals with Fanconi anemia (PMID: 10090479, 15643609, 16084127, 23898106, 24584348). ClinVar contains an entry for this variant (Variation ID: 553521). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV000668991 | SCV001425888 | likely pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards. |