ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)

gnomAD frequency: 0.00001  dbSNP: rs764125735
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301219 SCV000444283 uncertain significance Sideroblastic anemia 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000353474 SCV000444284 uncertain significance Refractory anemia with ringed sideroblasts 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001552246 SCV001772899 uncertain significance not provided 2021-06-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV004021912 SCV004950759 uncertain significance Inborn genetic diseases 2023-11-09 criteria provided, single submitter clinical testing The c.652A>T (p.I218F) alteration is located in exon 6 (coding exon 6) of the SLC25A38 gene. This alteration results from a A to T substitution at nucleotide position 652, causing the isoleucine (I) at amino acid position 218 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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