ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1642A>G (p.Met548Val)

gnomAD frequency: 0.00003  dbSNP: rs138176168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848466 SCV002104780 uncertain significance Hereditary spastic paraplegia 2020-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772382 SCV004585504 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-06-06 criteria provided, single submitter clinical testing 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. 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 WASHC5 protein function. ClinVar contains an entry for this variant (Variation ID: 1344363). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. This variant is present in population databases (rs138176168, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 548 of the WASHC5 protein (p.Met548Val).

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