ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.8933A>G (p.Tyr2978Cys)

gnomAD frequency: 0.00005  dbSNP: rs761794737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820912 SCV000961649 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-03-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 663109). 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: "Deleterious"; 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. This variant is present in population databases (rs761794737, gnomAD 0.007%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2978 of the DNAH1 protein (p.Tyr2978Cys).
Ambry Genetics RCV004029053 SCV003745879 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing The c.8933A>G (p.Y2978C) alteration is located in exon 56 (coding exon 55) of the DNAH1 gene. This alteration results from a A to G substitution at nucleotide position 8933, causing the tyrosine (Y) at amino acid position 2978 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792536 SCV005409240 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing

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