ClinVar Miner

Submissions for variant NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu)

gnomAD frequency: 0.00001  dbSNP: rs1351319114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003727825 SCV004535412 uncertain significance not provided 2023-09-03 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. Experimental studies have shown that this missense change affects CSF1R function (PMID: 30982609). 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 CSF1R protein function. ClinVar contains an entry for this variant (Variation ID: 635119). This missense change has been observed in individual(s) with autosomal recessive CSF1R-related conditions (PMID: 30982609). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 132 of the CSF1R protein (p.Pro132Leu).
OMIM RCV000785984 SCV000924614 pathogenic Brain abnormalities, neurodegeneration, and dysosteosclerosis 2019-06-21 no assertion criteria provided literature only

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