ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)

dbSNP: rs199422316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001818202 SCV002072210 likely pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852639 SCV002275068 likely pathogenic Dyskeratosis congenita 2021-11-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TINF2 function (PMID: 22211879). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 38924). This missense change has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 18669893, 26083318; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 287 of the TINF2 protein (p.Leu287Pro).
GeneReviews RCV000032175 SCV000055754 not provided Dyskeratosis congenita, autosomal dominant 1 no assertion provided literature only

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