ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His)

dbSNP: rs761528558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291206 SCV000344885 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522023 SCV003574173 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.3439G>C (p.D1147H) alteration is located in exon 31 (coding exon 31) of the DYSF gene. This alteration results from a G to C substitution at nucleotide position 3439, causing the aspartic acid (D) at amino acid position 1147 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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