ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.769A>T (p.Met257Leu)

dbSNP: rs1555754019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646034 SCV000767790 uncertain significance Hypomyelinating leukodystrophy 6 2017-11-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TUBB4A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with leucine at codon 257 of the TUBB4A protein (p.Met257Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. Algorithms developed to predict the effect of missense changes on protein structure and function 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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