ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)

gnomAD frequency: 0.00004  dbSNP: rs768354800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690511 SCV000818198 uncertain significance Qualitative or quantitative defects of dysferlin 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1413 of the DYSF protein (p.Arg1413His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 569799). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYSF protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Eurofins Ntd Llc (ga) RCV000734645 SCV000862801 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547153 SCV003701119 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.4238G>A (p.R1413H) alteration is located in exon 39 (coding exon 39) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 4238, causing the arginine (R) at amino acid position 1413 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274835 SCV001459351 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-17 no assertion criteria provided clinical testing

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