ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg)

gnomAD frequency: 0.00002  dbSNP: rs749184815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449705 SCV001652961 uncertain significance not specified 2021-01-05 criteria provided, single submitter clinical testing The p.Ser65Arg variant in BCSL1 has not been previously reported in individuals with Bjornstad syndrome but has been identified in 0.017% (6/35438) of Latino/Admixed American chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2_Supporting, BP4.
Fulgent Genetics, Fulgent Genetics RCV002476767 SCV002780581 uncertain significance Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2022-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832578 SCV002076345 uncertain significance GRACILE syndrome 2021-01-19 no assertion criteria provided clinical testing

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