ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg)

gnomAD frequency: 0.00001  dbSNP: rs201069468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848278 SCV002105992 uncertain significance Hereditary spastic paraplegia 2021-10-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261392 SCV002540927 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543381 SCV003448071 uncertain significance Hereditary spastic paraplegia 53 2022-11-22 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 VPS37A protein function. ClinVar contains an entry for this variant (Variation ID: 1344175). This variant has not been reported in the literature in individuals affected with VPS37A-related conditions. This variant is present in population databases (rs201069468, gnomAD 0.05%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 216 of the VPS37A protein (p.Ser216Arg).
Breakthrough Genomics, Breakthrough Genomics RCV002261392 SCV005195818 uncertain significance not provided criteria provided, single submitter not provided

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