ClinVar Miner

Submissions for variant NM_003038.5(SLC1A4):c.865G>A (p.Val289Met)

gnomAD frequency: 0.00102  dbSNP: rs139319094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021404 SCV002312169 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 289 of the SLC1A4 protein (p.Val289Met). This variant is present in population databases (rs139319094, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SLC1A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1517958). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV002021404 SCV004154935 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SLC1A4: BP4, BS2

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