ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.211C>G (p.Gln71Glu)

gnomAD frequency: 0.00001  dbSNP: rs1206007344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012441 SCV002284293 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 71 of the STAR protein (p.Gln71Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with STAR-related conditions. 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005042655 SCV005680182 uncertain significance Congenital lipoid adrenal hyperplasia due to STAR deficency 2024-06-01 criteria provided, single submitter clinical testing

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