ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1279G>A (p.Val427Ile)

gnomAD frequency: 0.00005  dbSNP: rs762216388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001162845 SCV001324820 uncertain significance Hemochromatosis type 3 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.
Ambry Genetics RCV002558556 SCV003697174 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.1279G>A (p.V427I) alteration is located in exon 10 (coding exon 10) of the TFR2 gene. This alteration results from a G to A substitution at nucleotide position 1279, causing the valine (V) at amino acid position 427 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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