Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002689389 | SCV003726354 | uncertain significance | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.3059G>A (p.R1020Q) alteration is located in exon 24 (coding exon 23) of the MYO7A gene. This alteration results from a G to A substitution at nucleotide position 3059, causing the arginine (R) at amino acid position 1020 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003225259 | SCV003921337 | uncertain significance | not provided | 2022-10-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Victorian Clinical Genetics Services, |
RCV004786867 | SCV005398495 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2 | 2020-05-25 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as VUS - 3B. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0108 - This gene is known to be associated with both recessive and dominant disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from arginine to glutamine (exon 24). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (4 Heterozygotes, 0 Homozygotes). (P) 0502 - Missense variant with conflicting in-silico predictions and/or uninformative conservation. (N) 0600 - Variant is located in an annotated domain or motif (PDB, NCBI). (N) 0705 - A comparable variant has been previously reported as a VUS (Deafnessvariationdatabase). (N) 0807 – This variant has been previously reported as a VUS (Deafnessvariationdatabase). (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
Prevention |
RCV004736299 | SCV005343555 | uncertain significance | MYO7A-related disorder | 2024-09-14 | no assertion criteria provided | clinical testing | The MYO7A c.3059G>A variant is predicted to result in the amino acid substitution p.Arg1020Gln. This variant was reported in an individual with hearing loss (Table S2, Perry et al. 2022. PubMed ID: 36515421). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |