ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)

gnomAD frequency: 0.00003  dbSNP: rs766403944
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062094 SCV001226870 uncertain significance Hereditary spastic paraplegia 11 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1184 of the SPG11 protein (p.Ser1184Ile). This variant is present in population databases (rs766403944, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of SPG11-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 856597). 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 disruptive. 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 RCV003160501 SCV003870997 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.3551G>T (p.S1184I) alteration is located in exon 21 (coding exon 21) of the SPG11 gene. This alteration results from a G to T substitution at nucleotide position 3551, causing the serine (S) at amino acid position 1184 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003223695 SCV003919396 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Athena Diagnostics RCV003223695 SCV004229163 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Revvity Omics, Revvity RCV003223695 SCV004237658 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003223695 SCV005193765 uncertain significance not provided criteria provided, single submitter not provided

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