ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)

dbSNP: rs1008630400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064007 SCV001228879 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 164 of the FKRP protein (p.Asn164Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 858183). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001827410 SCV002088954 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-08-20 no assertion criteria provided clinical testing

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