ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309904 SCV002604153 likely pathogenic Abetalipoproteinaemia 2022-02-24 criteria provided, single submitter clinical testing NM_000253.2(MTTP):c.2055del1ins5(N685Kfs*4) is expected to be pathogenic in the context of abetalipoproteinemia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MTTP, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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