ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)

gnomAD frequency: 0.00181  dbSNP: rs142031266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226642 SCV000291581 likely benign Primary ciliary dyskinesia 28 2025-01-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000226642 SCV001522197 uncertain significance Primary ciliary dyskinesia 28 2019-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002429139 SCV002741414 benign Primary ciliary dyskinesia 2017-02-06 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.

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