ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp)

gnomAD frequency: 0.00001  dbSNP: rs775801045
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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 RCV000814664 SCV000955081 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1108 of the ITGA7 protein (p.Arg1108Trp). This variant is present in population databases (rs775801045, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. ClinVar contains an entry for this variant (Variation ID: 657949). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004028821 SCV004888253 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing The c.3322C>T (p.R1108W) alteration is located in exon 25 (coding exon 25) of the ITGA7 gene. This alteration results from a C to T substitution at nucleotide position 3322, causing the arginine (R) at amino acid position 1108 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV000814664 SCV005328985 likely benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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