ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.3214C>T (p.Arg1072Trp)

gnomAD frequency: 0.00004  dbSNP: rs755566659
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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 RCV000629475 SCV000750419 uncertain significance Primary ciliary dyskinesia 2022-09-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1072 of the DNAH8 protein (p.Arg1072Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 525419). 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: "Not Available"; 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 RCV004025366 SCV004858672 uncertain significance not specified 2023-11-09 criteria provided, single submitter clinical testing The c.3214C>T (p.R1072W) alteration is located in exon 24 (coding exon 23) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 3214, causing the arginine (R) at amino acid position 1072 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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