ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)

dbSNP: rs2131588122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391024 SCV001592940 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-12-30 criteria provided, single submitter clinical testing This sequence change inserts a large fragment of DNA, likely a transposable element, in exon 3 of the POMT1 gene (c.160_161ins?), causing a frameshift at codon 54 (p.Tyr54fs). The exact size and sequence of the insertion cannot be determined by the current assay. However, the insertion is expected to result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076965). Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to be disease-causing through disruption of either a coding region or splice site (PMID: 19763152, 20307669, 22406018) and loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). For these reasons, this variant has been classified as Pathogenic.

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