ClinVar Miner

Submissions for variant NM_003136.4(SRP54):c.1210C>G (p.Gln404Glu)

gnomAD frequency: 0.00001  dbSNP: rs1398862907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765538 SCV001999099 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004968260 SCV005508110 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.1210C>G (p.Q404E) alteration is located in exon 14 (coding exon 13) of the SRP54 gene. This alteration results from a C to G substitution at nucleotide position 1210, causing the glutamine (Q) at amino acid position 404 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001765538 SCV005758729 uncertain significance not provided 2024-08-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 404 of the SRP54 protein (p.Gln404Glu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SRP54-related conditions. ClinVar contains an entry for this variant (Variation ID: 1309369). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SRP54 protein function with a negative predictive value of 80%. 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.

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