ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)

gnomAD frequency: 0.00012  dbSNP: rs138098668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795056 SCV000934497 uncertain significance Methylcobalamin deficiency type cblE 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 325 of the MTRR protein (p.Gln325Lys). This variant is present in population databases (rs138098668, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. ClinVar contains an entry for this variant (Variation ID: 641747). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Fulgent Genetics, Fulgent Genetics RCV002493449 SCV002778486 uncertain significance Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003344052 SCV004052023 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.973C>A (p.Q325K) alteration is located in exon 7 (coding exon 6) of the MTRR gene. This alteration results from a C to A substitution at nucleotide position 973, causing the glutamine (Q) at amino acid position 325 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000795056 SCV001459127 uncertain significance Methylcobalamin deficiency type cblE 2020-01-08 no assertion criteria provided clinical testing

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