ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)

gnomAD frequency: 0.00133  dbSNP: rs143537405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188212 SCV000241819 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001082176 SCV000636489 likely benign Lafora disease 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314733 SCV000849203 uncertain significance Inborn genetic diseases 2018-12-18 criteria provided, single submitter clinical testing The p.V141A variant (also known as c.422T>C), located in coding exon 1 of the NHLRC1 gene, results from a T to C substitution at nucleotide position 422. The valine at codon 141 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000188212 SCV001715878 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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