ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3951+1G>A (rs1555785054)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522867 SCV000618070 likely pathogenic not provided 2017-05-19 criteria provided, single submitter clinical testing This variant is denoted SMARCA4 c.3951+1G>A or IVS28+1G>A and consists of a G>A nucleotidesubstitution at the +1 position of intron 28 of the SMARCA4 gene. This variant destroys a canonical splice donor siteand is predicted to cause abnormal gene splicing, leading to in-frame skipping of exon 28. Although this variant hasnot, to our knowledge, been published in the literature, a smaller in-frame deletion of four amino acids within exon 28was identified in the homozygous state in a small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) tumorfrom a woman diagnosed at 18 years of age (Jelinic 2004). In addition, this variant has been observed internally in anindividual with a history of SCCOHT. Based on currently available information, we consider this to be a likelypathogenic variant.

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