ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.515T>C (p.Leu172Pro)

gnomAD frequency: 0.00002  dbSNP: rs749614458
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315027 SCV001505582 uncertain significance Nemaline myopathy 8 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 172 of the KLHL40 protein (p.Leu172Pro). This variant is present in population databases (rs749614458, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of neuromuscular disorders (PMID: 32403337). ClinVar contains an entry for this variant (Variation ID: 1016077). 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) has been performed at Invitae 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 KLHL40 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.

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