ClinVar Miner

Submissions for variant NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg)

gnomAD frequency: 0.00004  dbSNP: rs121913068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002468971 SCV002765917 uncertain significance not specified 2022-11-15 criteria provided, single submitter clinical testing Variant summary: F13A1 c.1504G>A (p.Gly502Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251462 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1504G>A has been reported in the literature in heterozygous individuals affected with Factor XIIIA Deficiency (Board_1993, Cogfgan_1995). These reports do not provide unequivocal conclusions about association of the variant with Factor XIIIA Deficiency. At least one publication showed this variant was enzymatically active in fresh yeast lysate but it had thermal instability (Coggan_1995). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000017992 SCV000038271 pathogenic Factor XIII, A subunit, deficiency of 1995-05-01 no assertion criteria provided literature only

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