ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)

gnomAD frequency: 0.00006  dbSNP: rs139857637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691815 SCV000819608 benign Primary ciliary dyskinesia 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000691815 SCV002661405 uncertain significance Primary ciliary dyskinesia 2021-10-29 criteria provided, single submitter clinical testing The p.S211L variant (also known as c.632C>T), located in coding exon 5 of the DNAH5 gene, results from a C to T substitution at nucleotide position 632. The serine at codon 211 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003432737 SCV004153961 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing DNAH5: PM2, BP4
GeneDx RCV003432737 SCV005389114 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000691815 SCV002081821 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742577 SCV005351644 uncertain significance DNAH5-related disorder 2024-05-02 no assertion criteria provided clinical testing The DNAH5 c.632C>T variant is predicted to result in the amino acid substitution p.Ser211Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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