ClinVar Miner

Submissions for variant NM_058216.1:c.371_372insALU

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003379894 SCV004097257 likely pathogenic Hereditary cancer-predisposing syndrome 2023-06-29 criteria provided, single submitter clinical testing The c.371_372insALU likely pathogenic variant results from the insertion of an Alu element between nucleotides 371 and 372 in coding exon 2 of the RAD51C gene. Mobile element insertions contribute to pathogenicity by either disrupting the coding sequence or inducing aberrant splicing (Belancio VP et al. Semin. Cancer Biol. 2010 Aug;20:200-10; Deininger P et al. Genome Biol. 2011 Dec;12:236; van der Klift HM Hum Mutat. 2012 Jul;33(7):1051-5). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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