ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4603C>T (p.Arg1535Cys)

gnomAD frequency: 0.00002  dbSNP: rs775222435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039574 SCV001203106 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2019-03-14 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 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: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with DNAH1-related conditions. This variant is present in population databases (rs775222435, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 1535 of the DNAH1 protein (p.Arg1535Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
Ambry Genetics RCV002551450 SCV003538955 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.4603C>T (p.R1535C) alteration is located in exon 28 (coding exon 27) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 4603, causing the arginine (R) at amino acid position 1535 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003413824 SCV004114700 uncertain significance DNAH1-related condition 2023-07-14 criteria provided, single submitter clinical testing The DNAH1 c.4603C>T variant is predicted to result in the amino acid substitution p.Arg1535Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-52394358-C-T). 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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