ClinVar Miner

Submissions for variant NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu)

gnomAD frequency: 0.00001  dbSNP: rs965127002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330858 SCV001522687 uncertain significance Multiple mitochondrial dysfunctions syndrome 2 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546418 SCV003013046 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1029542). This variant has not been reported in the literature in individuals affected with BOLA3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 26 of the BOLA3 protein (p.Phe26Leu).

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