ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.512_528del (p.Thr171fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV005052915 SCV005684999 likely pathogenic Myopathy with abnormal lipid metabolism criteria provided, single submitter clinical testing A frameshift variant c.512_528del, p.(Thr171ArgfsTer8) in exon 2 of FLAD1 in heterozygous state. This variant is not observed in the gnomAD database. ACMG classification: Likely pathogenic Criteria met: PVS1 and PM2_Supporting

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