ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)

gnomAD frequency: 0.00017  dbSNP: rs199689138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521089 SCV000618135 uncertain significance not provided 2024-10-11 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; This variant is associated with the following publications: (PMID: 22571692)
Labcorp Genetics (formerly Invitae), Labcorp RCV001062199 SCV001226981 uncertain significance Hereditary spastic paraplegia 7 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 647 of the SPG7 protein (p.Ala647Ser). This variant is present in population databases (rs199689138, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 449759). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Baylor Genetics RCV001062199 SCV001529287 uncertain significance Hereditary spastic paraplegia 7 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848911 SCV002105863 uncertain significance Hereditary spastic paraplegia 2018-01-01 criteria provided, single submitter clinical testing

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