Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001162817 | SCV001324790 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4 | 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. |
Illumina Laboratory Services, |
RCV001162818 | SCV001324791 | uncertain significance | Pendred syndrome | 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. |
Gene |
RCV001836967 | SCV002097505 | uncertain significance | not provided | 2022-02-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26037345) |
Neuberg Centre For Genomic Medicine, |
RCV001162817 | SCV004100599 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4 | criteria provided, single submitter | clinical testing | The missense variant p.G707R in SLC26A4 (NM_000441.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant has been submitted to ClinVar as Uncertain Significance.The p.G707R variant is observed in 4/34,542 (0.0116%) alleles from individuals of Latino background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between glycine and arginine. The p.G707R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.2119 in SLC26A4 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. In the absence of a second reportable mutation, the molecular diagnosis is not confirmed. For these reasons, this variant has been classified as Uncertain Significance. The same variant was observed in heterozygous state in her unaffected mother. |