ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7276G>A (p.Val2426Met)

dbSNP: rs1358019293
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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 RCV001231736 SCV001404268 uncertain significance Hereditary spastic paraplegia 11 2019-07-24 criteria provided, single submitter clinical testing This variant has been observed in the heterozygous state in an individual affected with amyotrophic lateral sclerosis; a variant in a different gene was also identified in this individual (PMID: 29342275). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 2426 of the SPG11 protein (p.Val2426Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine.

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