Submissions for variant NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) (rs200454893)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000811826	SCV000952113	uncertain significance	Dyskeratosis congenita	2019-02-28	criteria provided, single submitter	clinical testing	This sequence change replaces proline with serine at codon 344 of the TINF2 protein (p.Pro344Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs200454893, ExAC 0.02%). This variant has not been reported in the literature in individuals with TINF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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