ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.535C>G (p.Leu179Val)

dbSNP: rs1728912756
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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 RCV001223237 SCV001395376 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2019-05-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SPATA5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 179 of the SPATA5 protein (p.Leu179Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.
GeneDx RCV001760211 SCV001991952 uncertain significance not provided 2019-04-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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