ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)

gnomAD frequency: 0.00029  dbSNP: rs150912414
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000625725 SCV000710797 pathogenic Idiopathic transverse myelitis criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000650274 SCV000772114 uncertain significance Hereditary spastic paraplegia 53 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 234 of the VPS37A protein (p.Leu234Ile). This variant is present in population databases (rs150912414, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with idiopathic transverse myelitis (PMID: 29473047). ClinVar contains an entry for this variant (Variation ID: 522587). 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) indicates that this missense variant is not expected to disrupt VPS37A 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.
Baylor Genetics RCV000650274 SCV003835174 uncertain significance Hereditary spastic paraplegia 53 2021-10-07 criteria provided, single submitter clinical testing
OMIM RCV001528188 SCV001739446 uncertain significance not provided 2021-06-30 no assertion criteria provided literature only

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