ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)

dbSNP: rs121918545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382426 SCV001581190 pathogenic Dyskeratosis congenita 2020-03-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 282 of the TINF2 protein (p.Arg282Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in in individual(s) with dyskeratosis congenita (PMID: 18252230). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 5626). This variant has been reported to affect TINF2 protein function (PMID: 21536674). This variant disrupts the p.Arg282 amino acid residue in TINF2. Other variants that disrupt this residue have been determined to be pathogenic (PMID: 18669893, 19090550, 21199492, 26859482, 29742735, 23094712). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005980 SCV000026162 pathogenic Dyskeratosis congenita, autosomal dominant 3 2011-07-01 no assertion criteria provided literature only
GeneReviews RCV000032168 SCV000055747 not provided Dyskeratosis congenita, autosomal dominant 1 no assertion provided literature only

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