ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6433C>T (p.Pro2145Ser)

gnomAD frequency: 0.00001  dbSNP: rs1476385255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297514 SCV001486537 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-05-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1001249). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2145 of the DNAH1 protein (p.Pro2145Ser).

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