ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)

dbSNP: rs886041020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237814 SCV002009623 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000258709 SCV003442554 uncertain significance Hypomyelinating leukodystrophy 6 2022-07-29 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 267791). This missense change has been observed in individual(s) with hypomyelinating leukodystrophy (PMID: 24785942). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 388 of the TUBB4A protein (p.Met388Thr).
GeneDx RCV003237814 SCV004031825 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26643067, 24785942, 25168210, 27809427, 26934450, 33597727)
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000258709 SCV005187390 likely pathogenic Hypomyelinating leukodystrophy 6 2020-12-28 criteria provided, single submitter clinical testing This missense variant (c.1163T>C, p.Met388Thr) has not been observed in population databases (gnomAD). The change has been reported in the literature (PMID 24785942, PMID 25168210). Variant prediction programs suggest a deleterious effect, although no functional studies have been published.
GeneReviews RCV000258709 SCV000328479 not provided Hypomyelinating leukodystrophy 6 no assertion provided literature only

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