ClinVar Miner

Submissions for variant NM_213569.2(NEBL):c.358-27884del (rs768079285)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000850234 SCV000992363 likely pathogenic Primary dilated cardiomyopathy 2019-09-09 criteria provided, single submitter clinical testing The p.Asn418MetfsTer3 variant was not reported in any study to our knowledge. This variant has an extremely low frequency of occurence (rs768079285). Nebulette protein truncation has a severe functional consequences (PMID: 10470015, 11822876). NEBL gene is known to be in association with various cardiomyopathies (PMID: 27186169). Based on this evidences the p.Asn418MetfsTer3 is classified as likely pathogenic.

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