ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr)

dbSNP: rs753049408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021466 SCV002310518 uncertain significance Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 510 of the MTHFR protein (p.Lys510Thr). This variant is present in population databases (rs753049408, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of severe methylenetetrahydrofolate reductase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 1518052). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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