ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu)

dbSNP: rs374918259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658740 SCV000780528 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794473 SCV000933884 uncertain significance Charcot-Marie-Tooth disease type 1C 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 143 of the LITAF protein (p.Asp143Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LITAF-related disease. ClinVar contains an entry for this variant (Variation ID: 546770). 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: "Probably Damaging"; 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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