ClinVar Miner

Submissions for variant NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)

gnomAD frequency: 0.00001  dbSNP: rs730880025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227679 SCV003924632 likely pathogenic not provided 2023-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect on protein binding (Smith et al., 214; Ganne et al., 2023); This variant is associated with the following publications: (PMID: 26465396, 31585128, 31574570, 28412269, 25374358, 33378215, 34830115, 34169147, 36747013)
OMIM RCV000157034 SCV000206762 pathogenic Amyotrophic lateral sclerosis type 22 2014-10-22 no assertion criteria provided literature only

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