Submissions for variant NM_004995.4(MMP14):c.40C>T (p.Pro14Ser)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV005100268	SCV005789817	uncertain significance	not provided	2024-03-12	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 14 of the MMP14 protein (p.Pro14Ser). This variant is present in population databases (rs750574703, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MMP14-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Department of Clinical Pathology, School of Medicine, Fujita Health University	RCV004557807	SCV004218071	likely benign	EBV-positive nodal T- and NK-cell lymphoma		no assertion criteria provided	research