ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)

gnomAD frequency: 0.00002  dbSNP: rs202184316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246597 SCV001419961 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1119 of the WASHC5 protein (p.Pro1119Arg). This variant is present in population databases (rs202184316, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 970935). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WASHC5 protein function. 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 RCV002564104 SCV003730852 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.3356C>G (p.P1119R) alteration is located in exon 28 (coding exon 27) of the WASHC5 gene. This alteration results from a C to G substitution at nucleotide position 3356, causing the proline (P) at amino acid position 1119 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003319454 SCV004023443 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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