ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.179C>G (p.Pro60Arg)

gnomAD frequency: 0.00008  dbSNP: rs373405573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598400 SCV000708401 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000598400 SCV002221724 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 60 of the SLC19A2 protein (p.Pro60Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs373405573, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with SLC19A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 501881). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002532629 SCV003673019 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.179C>G (p.P60R) alteration is located in exon 1 (coding exon 1) of the SLC19A2 gene. This alteration results from a C to G substitution at nucleotide position 179, causing the proline (P) at amino acid position 60 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005049615 SCV005683652 uncertain significance Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2024-06-04 criteria provided, single submitter clinical testing

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