ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1632C>A (p.His544Gln)

gnomAD frequency: 0.00010  dbSNP: rs553129361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870231 SCV001011718 likely benign Fanconi anemia 2024-10-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115562 SCV001273548 uncertain significance Fanconi anemia complementation group A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002539952 SCV003564240 uncertain significance Inborn genetic diseases 2024-12-15 criteria provided, single submitter clinical testing The p.H544Q variant (also known as c.1632C>A), located in coding exon 18 of the FANCA gene, results from a C to A substitution at nucleotide position 1632. The histidine at codon 544 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000870231 SCV002095022 likely benign Fanconi anemia 2020-10-28 no assertion criteria provided clinical testing

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