ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.877T>G (p.Phe293Val)

gnomAD frequency: 0.00272  dbSNP: rs143168314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972290 SCV001119993 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505476 SCV002803648 likely benign Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2021-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548366 SCV003754797 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.877T>G (p.F293V) alteration is located in exon 7 (coding exon 7) of the SCYL1 gene. This alteration results from a T to G substitution at nucleotide position 877, causing the phenylalanine (F) at amino acid position 293 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000972290 SCV005211312 likely benign not provided criteria provided, single submitter not provided

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