ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)

dbSNP: rs1194084403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803616 SCV000943496 likely pathogenic Lafora disease 2023-08-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 expected to disrupt NHLRC1 protein function. ClinVar contains an entry for this variant (Variation ID: 648810). This missense change has been observed in individual(s) with NHLRC1-related disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 192 of the NHLRC1 protein (p.Asp192Val).

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