ClinVar Miner

Submissions for variant NM_000506.5(F2):c.191C>T (p.Thr64Met)

gnomAD frequency: 0.00051  dbSNP: rs142001812
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001105606 SCV001262590 uncertain significance Congenital prothrombin deficiency 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001105607 SCV001262591 uncertain significance Thrombophilia due to thrombin defect 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001105606 SCV001528498 uncertain significance Congenital prothrombin deficiency 2018-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002411630 SCV002721415 uncertain significance Inborn genetic diseases 2024-06-09 criteria provided, single submitter clinical testing The p.T64M variant (also known as c.191C>T), located in coding exon 2 of the F2 gene, results from a C to T substitution at nucleotide position 191. The threonine at codon 64 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792725 SCV005412314 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing PM1_supporting, PM2_moderate

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