ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)

dbSNP: rs1396798963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321350 SCV001512177 uncertain significance not provided 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1037 of the USH2A protein (p.Pro1037Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1021562). 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: "Possibly 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.
Ambry Genetics RCV003355387 SCV004065376 uncertain significance Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.3109C>T (p.P1037S) alteration is located in exon 15 (coding exon 14) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 3109, causing the proline (P) at amino acid position 1037 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449918 SCV004182371 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449917 SCV004182372 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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