ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.206_208del (p.Ser69del)

dbSNP: rs2054893955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209480 SCV001380917 likely pathogenic Walker-Warburg congenital muscular dystrophy 2022-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 939991). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is also known as c.204_206del. This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 27142102, 27439679, 30003095). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant, c.206_208del, results in the deletion of 1 amino acid(s) of the FKRP protein (p.Ser69del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV003469346 SCV004197413 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836149 SCV002088937 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-02-24 no assertion criteria provided clinical testing

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