ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.477C>T (p.Gly159=)

gnomAD frequency: 0.00007  dbSNP: rs897766386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372282 SCV001568906 likely benign Primary ciliary dyskinesia 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416291 SCV004109190 uncertain significance DNAH5-related condition 2023-03-10 criteria provided, single submitter clinical testing The DNAH5 c.477C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to create a cryptic splice donor site based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-13922399-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001372282 SCV002081825 uncertain significance Primary ciliary dyskinesia 2020-03-17 no assertion criteria provided clinical testing

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