ClinVar Miner

Submissions for variant NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)

gnomAD frequency: 0.00072  dbSNP: rs150629342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469271 SCV000547682 likely benign Primary ciliary dyskinesia 2025-02-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333455 SCV001526031 uncertain significance Primary ciliary dyskinesia 24 2018-05-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetics and Molecular Pathology, SA Pathology RCV000469271 SCV002761794 uncertain significance Primary ciliary dyskinesia 2019-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526411 SCV003760800 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.907A>G (p.R303G) alteration is located in exon 9 (coding exon 9) of the RSPH1 gene. This alteration results from a A to G substitution at nucleotide position 907, causing the arginine (R) at amino acid position 303 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004755921 SCV005354762 likely benign RSPH1-related disorder 2024-04-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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