ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5689T>G (p.Tyr1897Asp)

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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 RCV004979437 SCV005571598 uncertain significance Inborn genetic diseases 2024-07-10 criteria provided, single submitter clinical testing The c.5572T>G (p.Y1858D) alteration is located in exon 50 (coding exon 50) of the DYSF gene. This alteration results from a T to G substitution at nucleotide position 5572, causing the tyrosine (Y) at amino acid position 1858 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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