ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) (rs1324125372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792008 SCV000931279 likely pathogenic Charcot-Marie-Tooth disease, type 1C 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 111 of the LITAF protein (p.Ala111Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with CMT1C (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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Variants that disrupt the p.Ala111  amino acid residue in LITAF have been observed in affected individuals (PMID: 1678513). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996213 SCV001150807 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV001027505 SCV001190080 likely pathogenic Charcot-Marie-Tooth disease no assertion criteria provided provider interpretation

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