ClinVar Miner

Submissions for variant NM_000236.3(LIPC):c.915G>C (p.Met305Ile)

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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 RCV003725365 SCV004518563 uncertain significance not provided 2024-03-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 305 of the LIPC protein (p.Met305Ile). This variant is present in population databases (rs776867538, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LIPC-related conditions. 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 LIPC 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.
Ambry Genetics RCV004374072 SCV004899229 uncertain significance not specified 2023-11-13 criteria provided, single submitter clinical testing The c.915G>C (p.M305I) alteration is located in exon 6 (coding exon 6) of the LIPC gene. This alteration results from a G to C substitution at nucleotide position 915, causing the methionine (M) at amino acid position 305 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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