ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001120218 SCV001278693 uncertain significance Saldino-Mainzer 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001120218 SCV001373783 uncertain significance Saldino-Mainzer syndrome 2020-03-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1452 of the IFT140 protein (p.Glu1452Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs142106374, ExAC 0.009%). This variant has been observed in an individual affected with cardiac malformations (PMID: 27058611). This variant is also known as p.E1065K in the literature. 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: Not Available; Align-GVGD: Class C0). 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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