ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys)

gnomAD frequency: 0.00004  dbSNP: rs201280060
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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 RCV000528661 SCV000648300 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 526 of the ITGA7 protein (p.Tyr526Cys). This variant is present in population databases (rs201280060, gnomAD 0.008%). 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: 470566). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV000528661 SCV003815718 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629238 SCV005124614 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing The c.1577A>G (p.Y526C) alteration is located in exon 12 (coding exon 12) of the ITGA7 gene. This alteration results from a A to G substitution at nucleotide position 1577, causing the tyrosine (Y) at amino acid position 526 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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