ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.99C>G (p.Phe33Leu)

dbSNP: rs1331243813
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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 RCV001296267 SCV001485226 uncertain significance Hereditary spastic paraplegia 7 2020-01-26 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SPG7-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces phenylalanine with leucine at codon 33 of the SPG7 protein (p.Phe33Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Baylor Genetics RCV001296267 SCV001522928 uncertain significance Hereditary spastic paraplegia 7 2019-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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