ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)

gnomAD frequency: 0.00005  dbSNP: rs148696330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880236 SCV002194346 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 626 of the MTTP protein (p.Arg626Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148696330, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with MTTP-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 tolerated. 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 RCV004649550 SCV005146743 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.1876C>T (p.R626C) alteration is located in exon 15 (coding exon 14) of the MTTP gene. This alteration results from a C to T substitution at nucleotide position 1876, causing the arginine (R) at amino acid position 626 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277712 SCV001464680 uncertain significance Abetalipoproteinaemia 2020-08-16 no assertion criteria provided clinical testing

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