ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.304_308del (p.Lys102fs) (rs776859202)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000364776 SCV000330226 pathogenic not provided 2016-02-17 criteria provided, single submitter clinical testing The c.304_308delAAAGA pathogenic variant in the ANO5 gene has been reported previously in the compound heterozygous state along with another ANO5 pathogenic variant in an individual with mild calf hypertrophy, elevated CK, and central nuclei and increased fiber size identified histologically (Savarese et al., 2015). The deletion causes a frameshift starting with codon Lysine 102, changes this amino acid to a Valine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Lys102ValfsX2. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, c.304_308delAAAGA is considered a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000364776 SCV000331883 pathogenic not provided 2016-09-19 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509433 SCV000607143 not provided Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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