ClinVar Miner

Submissions for variant NM_007289.4(MME):c.602T>C (p.Ile201Thr)

gnomAD frequency: 0.00003  dbSNP: rs374541166
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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 RCV001947307 SCV002132389 uncertain significance not provided 2021-10-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 201 of the MME protein (p.Ile201Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs374541166, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with MME-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004040397 SCV005012524 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.602T>C (p.I201T) alteration is located in exon 7 (coding exon 6) of the MME gene. This alteration results from a T to C substitution at nucleotide position 602, causing the isoleucine (I) at amino acid position 201 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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