ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1A>C (p.Met1Leu)

dbSNP: rs772751654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. 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.

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