ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.820A>G (p.Ser274Gly)

dbSNP: rs2125738185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043817 SCV002312261 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2021-07-17 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPATA5 protein function. This variant has not been reported in the literature in individuals affected with SPATA5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 274 of the SPATA5 protein (p.Ser274Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.

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