ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)

gnomAD frequency: 0.00001  dbSNP: rs1030039318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565742 SCV001789144 likely pathogenic not provided 2020-11-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23744890, 32672072)
Labcorp Genetics (formerly Invitae), Labcorp RCV001882667 SCV002276494 uncertain significance Amyotrophic lateral sclerosis type 1 2021-09-29 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 expected to disrupt SOD1 protein function. This variant is also known as Phe64Leu. This variant has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 23744890). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 65 of the SOD1 protein (p.Phe65Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Athena Diagnostics RCV001565742 SCV002771832 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing

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