ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)

gnomAD frequency: 0.00004  dbSNP: rs757109346
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001154532 SCV001315907 uncertain significance Primary ciliary dyskinesia 3 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 (formerly Invitae), Labcorp RCV001245183 SCV001418454 likely benign Primary ciliary dyskinesia 2024-11-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001154532 SCV001786947 uncertain significance Primary ciliary dyskinesia 3 2021-07-14 criteria provided, single submitter clinical testing
Arcensus RCV001154532 SCV002564581 uncertain significance Primary ciliary dyskinesia 3 2013-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001154532 SCV002799578 uncertain significance Primary ciliary dyskinesia 3 2022-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001245183 SCV003532548 likely benign Primary ciliary dyskinesia 2021-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001154532 SCV004807239 uncertain significance Primary ciliary dyskinesia 3 2024-03-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001245183 SCV002078405 uncertain significance Primary ciliary dyskinesia 2020-01-24 no assertion criteria provided clinical testing

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