ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) (rs539627278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795892 SCV000935372 uncertain significance Charcot-Marie-Tooth disease, type 1C 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 80 of the LITAF protein (p.Tyr80Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs539627278, ExAC 0.01%). This variant has been observed in one or more individuals who were not affected with Charcot_x0001_Marie_x0001_Tooth (CMT) 1C (PMID: 28211240). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198311 SCV001369195 uncertain significance Hypomimic face; Hyporeflexia; Generalized hypotonia 2019-08-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP3. This variant was detected in heterozygous state.

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