ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val)

gnomAD frequency: 0.00073  dbSNP: rs139136931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533985 SCV000648332 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1068 of the ITGA7 protein (p.Ala1068Val). This variant is present in population databases (rs139136931, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with developmental disorder (PMID: 31785789). This variant is also known as 12:56079053. ClinVar contains an entry for this variant (Variation ID: 470578). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ITGA7 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000533985 SCV000896313 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001584310 SCV001810852 uncertain significance not provided 2020-06-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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