ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)

gnomAD frequency: 0.00009  dbSNP: rs574740801
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705046 SCV000243097 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Claritas Genomics RCV000449497 SCV000537839 uncertain significance Peripheral neuropathy 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV000474048 SCV000553141 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1347 of the SPTAN1 protein (p.Asp1347Asn). This variant is present in population databases (rs574740801, gnomAD 0.02%). 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: 207286). 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.
Genome-Nilou Lab RCV001808489 SCV002056568 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705046 SCV002063260 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001705046 SCV003822672 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing

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