ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)

dbSNP: rs1560120302
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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 RCV000707343 SCV000836435 pathogenic Diamond-Blackfan anemia 5 2018-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu40Ilefs*12) in the RPL35A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPL35A-related disease. Loss-of-function variants in RPL35A are known to be pathogenic (PMID: PMID: 18535205, 25946618). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002332516 SCV002633455 pathogenic Diamond-Blackfan anemia 2016-10-13 criteria provided, single submitter clinical testing The c.118_119delGA pathogenic mutation, located in coding exon 2 of the RPL35A gene, results from a deletion of two nucleotides at nucleotide positions 118 to 119, causing a translational frameshift with a predicted alternate stop codon (p.E40Ifs*12). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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