ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.652+8C>T

gnomAD frequency: 0.00003  dbSNP: rs778376741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325705 SCV000340506 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001214468 SCV001386151 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the POMGNT1 gene. It does not directly change the encoded amino acid sequence of the POMGNT1 protein. This variant is present in population databases (rs778376741, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 286911). 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.

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