ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.91C>G (p.His31Asp)

gnomAD frequency: 0.00001  dbSNP: rs1296514095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001914352 SCV002191506 uncertain significance Neuronal ceroid lipofuscinosis 7 2023-08-04 criteria provided, single submitter clinical testing 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. 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 MFSD8 protein function. ClinVar contains an entry for this variant (Variation ID: 1420536). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 31 of the MFSD8 protein (p.His31Asp).

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