ClinVar Miner

Submissions for variant NM_000133.4(F9):c.60A>G (p.Leu20=)

gnomAD frequency: 0.00001  dbSNP: rs762082146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen RCV001167104 SCV004363694 benign Hereditary factor IX deficiency disease 2024-02-09 reviewed by expert panel curation The NM_000133.4(F9):c.60A>G (p.Leu20=) synonymous variant is reported at an MAF of 0.0009351 (7/7486 alleles) in the Ashkenazi Jewish population in gnomAD v2.1.1 with 4 hemizygotes, meeting BA1 criteria of MAF > 0.0000556. SpliceAI predicts no splicing impact with a score of 0.0, meeting BP4 and BP7 criteria (<0.01). In summary, based on the evidence available at this time, the clinical significance of this variant is benign. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F9: BA1, BP4 and BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV000869859 SCV001011319 likely benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-12-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167104 SCV001329554 uncertain significance Hereditary factor IX deficiency disease 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001167104 SCV001458778 likely benign Hereditary factor IX deficiency disease 2020-09-16 no assertion criteria provided clinical testing

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