ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.930del (p.Ile310fs)

dbSNP: rs1589625048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850600 SCV000992827 pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2017-12-31 criteria provided, single submitter clinical testing
GeneDx RCV004721646 SCV005326767 likely pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing Identified as homozygous in an individual in a study of reanalysis of clinical exome sequencing data. Clinical information on the individual was not provided (PMID: 31216405); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in abnormal protein length as the last 28 amino acids are replaced with 32 different amino acids; This variant is associated with the following publications: (PMID: 31216405)

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