ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)

gnomAD frequency: 0.00058  dbSNP: rs199422322
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319654 SCV000386418 likely benign Dyskeratosis congenita, autosomal dominant 3 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000372254 SCV000386419 likely benign Revesz syndrome 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000868533 SCV001009873 likely benign Dyskeratosis congenita 2023-11-19 criteria provided, single submitter clinical testing
Mendelics RCV000989196 SCV001139423 uncertain significance Autosomal recessive congenital ichthyosis 1 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818201 SCV002070372 likely benign not specified 2021-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000868533 SCV002678354 uncertain significance Dyskeratosis congenita 2016-04-14 criteria provided, single submitter clinical testing The p.E281K variant (also known as c.841G>A), located in coding exon 6 of the TINF2 gene, results from a G to A substitution at nucleotide position 841. The glutamic acid at codon 281 is replaced by lysine, an amino acid with similar properties. This variant has been reported in one individual with aplastic anemia, leukocytopenia, and normal telomere length (Walne AJ, Blood 2008 Nov; 112(9):3594-600; Vulliamy T, Clin. Genet. 2012 Jan; 81(1):76-81). This variant was previously reported in the SNPDatabase as rs199422322. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.04% (5/12218) total alleles studied, having been observed in 0.13% (5/3914) African American alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneReviews RCV000032167 SCV000055746 not provided Dyskeratosis congenita, autosomal dominant 1 no assertion provided literature only

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