ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) (rs201077964)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463187 SCV000546316 uncertain significance Primary ciliary dyskinesia 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 321 of the DNAH5 protein (p.Ser321Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs201077964, ExAC 0.05%) but has not been reported in the literature in individuals with a DNAH5-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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000625551 SCV001315694 uncertain significance Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625551 SCV000746046 likely pathogenic Ciliary dyskinesia, primary, 3 2017-09-18 no assertion criteria provided clinical testing

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