Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215836 | SCV000272420 | uncertain significance | not specified | 2015-09-02 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Leu465Ile var iant in SCNN1A has not been previously reported in individuals with pulmonary di sease, but has been identified in 33/66732 European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs149484264). C omputational prediction tools and conservation analysis suggest that the p.Leu46 5Ile variant may not impact the protein, though this information is not predicti ve enough to rule out pathogenicity. In summary, while the clinical significance of the p.Leu465Ile variant is uncertain, these data suggest that it is more lik ely to be benign. |
Illumina Laboratory Services, |
RCV000280531 | SCV000380741 | benign | Bronchiectasis with or without elevated sweat chloride 2 | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000337981 | SCV000380742 | uncertain significance | Pseudohypoaldosteronism, type IB1, autosomal recessive | 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. |
Labcorp Genetics |
RCV002518202 | SCV003289935 | benign | not provided | 2023-06-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002518203 | SCV003707315 | uncertain significance | Inborn genetic diseases | 2022-09-27 | criteria provided, single submitter | clinical testing | The c.1216C>A (p.L406I) alteration is located in exon 7 (coding exon 6) of the SCNN1A gene. This alteration results from a C to A substitution at nucleotide position 1216, causing the leucine (L) at amino acid position 406 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV005003563 | SCV005629517 | uncertain significance | Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 | 2024-06-18 | criteria provided, single submitter | clinical testing |