ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys)

dbSNP: rs886041011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000258678 SCV005187397 likely pathogenic Hypomyelinating leukodystrophy 6 2021-04-04 criteria provided, single submitter clinical testing This missense variant (c.847C>A, p.Gln292Lys) has not been observed in population databases (gnomAD) but the change has been reported it the literature (PMID 25085639). Variant prediction programs suggest a deleterious effect, although no functional studies have been published.
GeneReviews RCV000258678 SCV000328468 not provided Hypomyelinating leukodystrophy 6 no assertion provided literature only

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