ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)

dbSNP: rs2148563099
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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 RCV001976369 SCV002263337 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2023-05-15 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. 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. ClinVar contains an entry for this variant (Variation ID: 1475604). This variant has not been reported in the literature in individuals affected with HCFC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1627 of the HCFC1 protein (p.Thr1627Met).

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