ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)

gnomAD frequency: 0.00009  dbSNP: rs78324544
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700571 SCV000241810 uncertain significance not provided 2024-05-28 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000638342 SCV000759838 likely benign Lafora disease 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317125 SCV000851732 uncertain significance Inborn genetic diseases 2018-09-21 criteria provided, single submitter clinical testing The p.S364L variant (also known as c.1091C>T), located in coding exon 1 of the NHLRC1 gene, results from a C to T substitution at nucleotide position 1091. The serine at codon 364 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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.
Illumina Laboratory Services, Illumina RCV000638342 SCV001312946 uncertain significance Lafora disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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