ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)

dbSNP: rs1589327320
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000790470 SCV000929797 uncertain significance Developmental and epileptic encephalopathy, 5 2019-03-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999236 SCV001155757 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000790470 SCV002056765 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588679 SCV004363955 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1659 of the SPTAN1 protein (p.Leu1659Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 638004). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPTAN1 protein function. 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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