ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr)

gnomAD frequency: 0.00004  dbSNP: rs370852816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516941 SCV000615434 uncertain significance not specified 2017-02-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121650 SCV001280290 uncertain significance Hereditary spastic paraplegia 7 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001121650 SCV001541559 uncertain significance Hereditary spastic paraplegia 7 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 603 of the SPG7 protein (p.Ala603Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs370852816, ExAC 0.006%). This missense change has been observed in individual(s) with hereditary spastic paraplegia (PMID: 16534102). ClinVar contains an entry for this variant (Variation ID: 448472). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.

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