ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)

dbSNP: rs587777388
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000119274 SCV000256735 pathogenic Visceral myopathy 1 2014-03-27 criteria provided, single submitter research
New York Genome Center RCV001535397 SCV005044136 likely pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 2022-09-08 criteria provided, single submitter clinical testing The inherited c.400T>A variant has previously been reported as de novo in an individual with prune belly syndrome, MMIHS, and megacystis [PMID:24676022]. The c.400T>A variant is absent in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8, All of US), suggesting it is not a common benign variant in the populations represented in those databases. The c.400T>A variant is located in exon 5 of this 9-exon gene. In silico predictions are in favor of damaging effect for p.(Tyr134Asn) [(CADD v1.6 = 28.6, REVEL = 0.978)]; however, there are no functional studies to support or refute these predictions. The variant is reported in ClinVar [ClinVar ID:132805] as pathogenic in association with Visceral myopathy. Based on available evidence, this inherited c.400T>A, p.Tyr134Asn variant identified in ACTG2 is classified as Likely Pathogenic.
OMIM RCV001535397 SCV000154709 pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 2014-03-01 no assertion criteria provided literature only

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