ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)

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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 RCV002734959 SCV003008752 uncertain significance Hereditary spastic paraplegia 11 2022-01-16 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 not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 397 of the SPG11 protein (p.Asn397Ile).
Ambry Genetics RCV002721038 SCV003566476 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.1190A>T (p.N397I) alteration is located in exon 6 (coding exon 6) of the SPG11 gene. This alteration results from a A to T substitution at nucleotide position 1190, causing the asparagine (N) at amino acid position 397 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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