ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10649C>A (p.Ser3550Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1194381158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556599 SCV000660185 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2017-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 3550 of the DNAH1 protein (p.Ser3550Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNAH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Ambry Genetics RCV002527961 SCV003726608 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.10649C>A (p.S3550Y) alteration is located in exon 67 (coding exon 66) of the DNAH1 gene. This alteration results from a C to A substitution at nucleotide position 10649, causing the serine (S) at amino acid position 3550 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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