ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)

gnomAD frequency: 0.02977  dbSNP: rs9488992
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214561 SCV000269765 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala700Val in exon 6 of RSPH4A: This variant is not expected to have clinical sig nificance because it has been identified in 9.4% (412/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs9488992).
Preventiongenetics, part of Exact Sciences RCV000214561 SCV000305834 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094969 SCV000459752 benign Primary ciliary dyskinesia 11 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.
Invitae RCV000329299 SCV000560075 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706235 SCV001829355 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000329299 SCV002725079 benign Primary ciliary dyskinesia 2015-01-05 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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