ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)

dbSNP: rs121912290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004018699 SCV002685971 uncertain significance Dyskeratosis congenita 2015-09-01 criteria provided, single submitter clinical testing The p.L317F variant (also known as c.949C>T), located in coding exon 10 of the DKC1 gene, results from a C to T substitution at nucleotide position 949. The leucine at codon 317 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration was detected in one individual in a study of Johns Hopkins Telomere Syndrome Registry subjects with gastrointestinal disease (Jonassaint NL, Aging Cell 2013 Apr; 12(2):319-23). This variant was previously reported in the SNPDatabase as rs121912290. Based on data from the NHLBI Exome Sequencing Project (ESP), no alterations were observed among 6,503 alleles tested (0.0%). Allele frequency data for this nucleotide position is not currently available from the 1000 Genomes Project. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneReviews RCV000032208 SCV000055801 not provided Dyskeratosis congenita, X-linked no assertion provided literature only
UniProtKB/Swiss-Prot RCV000032208 SCV000090834 not provided Dyskeratosis congenita, X-linked no assertion provided not provided

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