ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4807G>A (p.Val1603Ile)

gnomAD frequency: 0.00004  dbSNP: rs773102484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889261 SCV002166090 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1603 of the DNAH1 protein (p.Val1603Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs773102484, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004039114 SCV003676357 uncertain significance not specified 2021-11-30 criteria provided, single submitter clinical testing The c.4807G>A (p.V1603I) alteration is located in exon 29 (coding exon 28) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 4807, causing the valine (V) at amino acid position 1603 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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