ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1309G>T (p.Gly437Cys)

dbSNP: rs139819321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713446 SCV000844054 uncertain significance not provided 2023-10-16 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 predict that this variant is damaging.
Labcorp Genetics (formerly Invitae), Labcorp RCV000713446 SCV001506083 uncertain significance not provided 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 437 of the SPART protein (p.Gly437Cys). This variant is present in population databases (rs139819321, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SPART-related conditions. ClinVar contains an entry for this variant (Variation ID: 530401). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849012 SCV002105792 uncertain significance Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025473 SCV004957337 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The c.1309G>T (p.G437C) alteration is located in exon 6 (coding exon 5) of the SPG20 gene. This alteration results from a G to T substitution at nucleotide position 1309, causing the glycine (G) at amino acid position 437 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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