ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.634G>A (p.Val212Met)

gnomAD frequency: 0.00004  dbSNP: rs1482492681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073889 SCV001239453 uncertain significance Retinal dystrophy 2018-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554687 SCV003522856 uncertain significance not provided 2022-03-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 866122). This variant has not been reported in the literature in individuals affected with IMPDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 212 of the IMPDH1 protein (p.Val212Met).
Ambry Genetics RCV003243472 SCV003939957 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.634G>A (p.V212M) alteration is located in exon 8 (coding exon 8) of the IMPDH1 gene. This alteration results from a G to A substitution at nucleotide position 634, causing the valine (V) at amino acid position 212 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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