ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)

gnomAD frequency: 0.00009  dbSNP: rs562925562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822206 SCV000962997 likely benign Qualitative or quantitative defects of dysferlin 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353063 SCV004055619 uncertain significance Inborn genetic diseases 2023-07-11 criteria provided, single submitter clinical testing The c.2431G>A (p.A811T) alteration is located in exon 24 (coding exon 24) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 2431, causing the alanine (A) at amino acid position 811 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274455 SCV001458656 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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