ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.40C>T (p.Leu14Phe)

gnomAD frequency: 0.00001  dbSNP: rs1426463647
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061909 SCV001226672 uncertain significance Diamond-Blackfan anemia 2019-03-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RPS10-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 14 of the RPS10 protein (p.Leu14Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.
Baylor Genetics RCV001292787 SCV001481440 uncertain significance Diamond-Blackfan anemia 9 2019-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004030442 SCV004005188 uncertain significance not specified 2023-03-31 criteria provided, single submitter clinical testing The c.40C>T (p.L14F) alteration is located in exon 2 (coding exon 1) of the RPS10-NUDT3 gene. This alteration results from a C to T substitution at nucleotide position 40, causing the leucine (L) at amino acid position 14 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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