ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.466C>T (p.Pro156Ser)

gnomAD frequency: 0.00005  dbSNP: rs202174672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733665 SCV001984423 uncertain significance Troyer syndrome 2020-07-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847323 SCV002105802 uncertain significance Hereditary spastic paraplegia 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539838 SCV003243861 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 156 of the SPART protein (p.Pro156Ser). This variant is present in population databases (rs202174672, gnomAD 0.01%). 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: 1301716). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPART protein function with a negative predictive value of 80%. 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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