ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2500T>C (p.Phe834Leu)

gnomAD frequency: 0.00003  dbSNP: rs533708441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002747531 SCV003566197 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.2446T>C (p.F816L) alteration is located in exon 24 (coding exon 24) of the DYSF gene. This alteration results from a T to C substitution at nucleotide position 2446, causing the phenylalanine (F) at amino acid position 816 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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