ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1460G>A (p.Ser487Asn)

gnomAD frequency: 0.00020  dbSNP: rs140619961
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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 RCV001321669 SCV001512509 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 487 of the ITGA7 protein (p.Ser487Asn). This variant is present in population databases (rs140619961, gnomAD 0.05%). 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: 1021842). 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. 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 RCV001321669 SCV003811454 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2020-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629566 SCV005124612 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.1460G>A (p.S487N) alteration is located in exon 10 (coding exon 10) of the ITGA7 gene. This alteration results from a G to A substitution at nucleotide position 1460, causing the serine (S) at amino acid position 487 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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