ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.2021A>G (p.Glu674Gly)

gnomAD frequency: 0.00004  dbSNP: rs777946738
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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 RCV001300241 SCV001489376 uncertain significance Primary ciliary dyskinesia 28 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 674 of the SPAG1 protein (p.Glu674Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs777946738, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with SPAG1-related conditions. 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: "Possibly 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.
PreventionGenetics, part of Exact Sciences RCV003945979 SCV004758336 likely benign VPS13B-related disorder 2023-03-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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