ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)

gnomAD frequency: 0.00004  dbSNP: rs562368641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244059 SCV001417254 likely benign Qualitative or quantitative defects of dysferlin 2023-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166527 SCV003887166 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.3185C>T (p.A1062V) alteration is located in exon 30 (coding exon 30) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 3185, causing the alanine (A) at amino acid position 1062 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003490155 SCV004234435 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836227 SCV002082267 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-13 no assertion criteria provided clinical testing

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