ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)

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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. RCV002309799 SCV002603678 likely pathogenic Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2022-02-19 criteria provided, single submitter clinical testing NM_004328.4(BCS1L):c.522_523delTG(E175Mfs*24) is expected to be pathogenic in the context of BCS1L-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BCS1L, 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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