Submissions for variant NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)

gnomAD frequency: 0.01149  dbSNP: rs117169123

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155569	SCV000205271	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Val497Ile in exon 3 of RSPH4A: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (133/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs117169123).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204311	SCV000262061	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000155569	SCV000305824	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095039	SCV000459741	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001706055	SCV001902707	benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31213628)
Ambry Genetics	RCV000204311	SCV002702680	benign	Primary ciliary dyskinesia	2014-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen	RCV001706055	SCV004160030	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	RSPH4A: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001706055	SCV005225176	likely benign	not provided		criteria provided, single submitter	not provided