ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.29T>G (p.Val10Gly)

dbSNP: rs200637441
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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 RCV002031366 SCV002313591 uncertain significance not provided 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 10 of the MECR protein (p.Val10Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MECR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1523964). 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.
GeneDx RCV002031366 SCV002552672 likely benign not provided 2021-12-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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