ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6934A>G (p.Met2312Val)

dbSNP: rs892306308
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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 RCV001898762 SCV002169834 uncertain significance Hereditary spastic paraplegia 11 2022-03-14 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2312 of the SPG11 protein (p.Met2312Val).
Ambry Genetics RCV002555328 SCV003708700 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.6934A>G (p.M2312V) alteration is located in exon 38 (coding exon 38) of the SPG11 gene. This alteration results from a A to G substitution at nucleotide position 6934, causing the methionine (M) at amino acid position 2312 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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