ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.443G>A (p.Ser148Asn)

gnomAD frequency: 0.00002  dbSNP: rs141990871
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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 RCV001320444 SCV001511229 uncertain significance Hereditary spastic paraplegia 11 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 148 of the SPG11 protein (p.Ser148Asn). This variant is present in population databases (rs141990871, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1020805). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002329284 SCV002633186 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.443G>A (p.S148N) alteration is located in exon 3 (coding exon 3) of the SPG11 gene. This alteration results from a G to A substitution at nucleotide position 443, causing the serine (S) at amino acid position 148 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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