ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp)

gnomAD frequency: 0.00002  dbSNP: rs760006172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536956 SCV000648312 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-03-08 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 627 of the ITGA7 protein (p.Arg627Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 470570). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000536956 SCV002791717 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258868 SCV003953957 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.1879C>T (p.R627W) alteration is located in exon 13 (coding exon 13) of the ITGA7 gene. This alteration results from a C to T substitution at nucleotide position 1879, causing the arginine (R) at amino acid position 627 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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